gnomAD
Verified by Mdexa · Checked against the source text under public rules.How we check
- Commercial use
- Yes
- Derivatives
- Yes
- Redistribution
- Yes
- File on Mdexa
- NoLink only
main part permissive
Cite this pageMdexa, gnomAD, https://mdexa.com/datasets/gnomad/, verified 2026-11-13.
Key facts
- Domain
- Genomics and omics Modern medicine
- Content
- DatabasesgnomAD data are released openly and publicly for the wider biomedical community; primary exome and genome data are free of restrictions under the Creative Commons Zero Public Domain Dedication.
- Size
- —
- Language / modality
- English / Tabular
- Publisher
- The Broad Institute, Inc.
- Year
- —
- Expert review
- —
- Verification
- Verified: license text seen
Commercial use of gnomAD
Commercial use: Yes. The overall verdict takes the strictest part; the parts carry different licenses, listed below. License status: Permissive, with a restricted part. The overall verdict does not cover the restricted part named below.
- Conditions
- Notice kept, No re-identification
- License part
- primary data from the gnomAD exomes and genomes — Permissive (CC0-1.0)
- License part
- Screenshots of the website — Permissive (NOASSERTION)
- License part
- SpliceAI annotations — Restricted (CC-BY-NC-4.0)
Quoted statements and their sources are in gnomAD license evidence.
Verdicts record what sources state and are not legal advice.
Practical information
Content scope
- The v4 release includes data from 807,162 total individuals.
gnomad.broadinstitute.org ·
Today, we are delighted to announce the release of gnomAD v4, which includes data from 807,162 total individuals.
https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/ · Dataset page · checked 2026-11-13
- The v4 data set contains data from 730,947 exomes and 76,215 whole genomes, all mapped to the GRCh38 reference sequence.
gnomad.broadinstitute.org ·
The gnomAD v4 data set contains data from 730,947 exomes and 76,215 whole genomes, all mapped to the GRCh38 reference sequence.
https://gnomad.broadinstitute.org/downloads · Dataset page · checked 2026-11-13
- The combined filtering allele frequency integrates variant allele frequencies across 734,947 exomes and 76,215 genomes.
gnomad.broadinstitute.org ·
For the first time, in gnomAD v4.0, we released a combined filtering allele frequency (FAF), integrating variant allele frequencies across the 734,947 exomes and 76,215 genomes.
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · Dataset page · checked 2026-11-13
- The v4.1 callset includes 416,555 UK Biobank and 314,392 non-UK Biobank exomes.
gnomad.broadinstitute.org ·
The gnomAD v4.1 callset includes 416,555 UK Biobank and 314,392 non-UK Biobank exomes, requiring the use of two calling interval lists for processing and quality control pipelines.
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · Dataset page · checked 2026-11-13
Identifiers
- variant identifier as shown on the pageThe page shows a variant identifier written as 1-55039909-TC-T in gnomAD v4.1.
gnomad.broadinstitute.org ·
This variant maps to 1-55039909-TC-T in gnomAD v4.1, where it still has an allele count of 1 (still present in only a single exome sample).
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · Dataset page · checked 2026-11-13
- → gnomAD v2.1.1The page gives 1-55505582-TC-T as an example of a variant present in gnomAD v2.1.1 only in the v2.1.1 exomes.
gnomad.broadinstitute.org ·
For example, 1-55505582-TC-T in gnomAD v2.1.1 is present only in the v2.1.1 exomes, and therefore the total AN at this site only contains information from the exomes.
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · Dataset page · checked 2026-11-13
- MismatchThe page states that 1-55505582-TC-T in gnomAD v2.1.1 is present only in the v2.1.1 exomes, and that this variant maps to 1-55039909-TC-T in gnomAD v4.1.
gnomad.broadinstitute.org ·
1-55505582-TC-T in gnomAD v2.1.1 is present only in the v2.1.1 exomes, and therefore the total AN at this site only contains information from the exomes. This variant maps to 1-55039909-TC-T in gnomAD v4.1
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · Dataset page · checked 2026-11-13
Access
- Bulk downloadgnomad.broadinstitute.org VCF
Same terms as the card's license.
- Some annotations may have restrictions on usage; SpliceAI annotations, computed by Illumina, are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use.
gnomad.broadinstitute.org ·
Some annotations may have restrictions on usage. For instance, SpliceAI annotations have been computed by Illumina and are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use SpliceAI.
https://gnomad.broadinstitute.org/policies · Terms of use page · checked 2026-11-13
- The page states that these data are currently available only in the Hail Table format.
gnomad.broadinstitute.org ·
these data are currently available only in the Hail Table format.
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · Dataset page · checked 2026-11-13
- All users of gnomAD data agree not to attempt to reidentify participants.
gnomad.broadinstitute.org ·
All users of gnomAD data agree to not attempt to reidentify participants.
https://gnomad.broadinstitute.org/policies · Terms of use page · checked 2026-11-13
- Some annotations may have restrictions on usage; SpliceAI annotations, computed by Illumina, are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use.
- Database dumpgnomad.broadinstitute.org BigQuery
Same terms as the card's license.
- Web interface onlyraw.githubusercontent.com
Same terms as the card's license.
Versions
- Latestv4.1 (19 April 2024) fixed the v4.0 allele-number issue and added joint allele number across all callable sites plus a flag for discordant exome/genome frequencies.
gnomad.broadinstitute.org ·
This update fixes the allele number issue in gnomAD v4.0 previously described here and critically adds two new functionalities: joint allele number across all called sites in the exomes and genomes and a new flag indicating when the frequencies in the exomes and genomes are highly discordant.
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · official-release-notes · checked 2026-11-14
- Update cycleThe v4 release follows a model of incremental releases, with v4.0 a minimum viable product release containing only the most critical components of the database.
gnomad.broadinstitute.org ·
In the v4 release, we have moved towards the model of incremental releases. This means that the v4.0 release is a minimum viable product (MVP) release, or a release that contains only the most critical components of the gnomAD database.
https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/ · Dataset page · checked 2026-11-13
- Breaking changeThe v4.0 release does not have all the features of the v2 or v3 releases; those features are to be released in subsequent minor releases.
gnomad.broadinstitute.org ·
This means that the v4.0 release will not have all of the features of the v2 or v3 releases, and these features will be released in subsequent minor releases.
https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/ · Dataset page · checked 2026-11-13
- Breaking changeThe gnomAD v3 release had five subsets, while gnomAD v4 has a single subset (non-UKBB).
gnomad.broadinstitute.org ·
The gnomAD v3 release had five subsets, whereas gnomAD v4 has a single subset (non-UKBB; see Dataset selection ).
https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/ · Dataset page · checked 2026-11-13
- Breaking changeThe v4.1 update fixes the allele number issue in gnomAD v4.0 previously described on the page.
gnomad.broadinstitute.org ·
This update fixes the allele number issue in gnomAD v4.0 previously described here
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · Dataset page · checked 2026-11-13
- Breaking changev4 removed support for cohort subsets (such as non-disease subsets) from the exomes, partly because phenotype metadata are lacking for biobank samples.
gnomad.broadinstitute.org ·
We have removed support for subsets from the gnomAD v4 exomes for two major reasons: given the large size of gnomAD v4 and the small size of any single cohort, we do not feel that the prevalence of any disease is high enough to warrant subsets.
https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/ · official-release-notes · checked 2026-11-14
- Breaking changeVariants from the v3.1 genomes were brought into v4 and relabelled as v4 genomes.
raw.githubusercontent.com ·
Variants from the genomes in v3.1 were brought directly into v4 and are now labeled v4 genomes.
https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/variant-qc.md · Dataset page · checked 2026-11-14
Known defects and misuse
- The page states that variant calling and filtering from short-read sequencing data is an imperfect and probabilistic process, so many errors no doubt remain.
gnomad.broadinstitute.org ·
This data set has been subjected to extensive quality control, but variant calling and filtering from short-read sequencing data is an imperfect and probabilistic process, so many errors no doubt remain.
https://gnomad.broadinstitute.org/policies · Terms of use page · checked 2026-11-13
- The 76,156 genomes from v3.1.2 included in v4 did not have their quality control updated, although some frequencies within the HGDP/1KG subset were updated.
gnomad.broadinstitute.org ·
The 76,156 genomes from gnomAD v3.1.2 have been included in gnomAD v4. We have not updated the quality control (QC) of these samples, but we have updated some of the frequencies within the HGDP and 1000 Genomes (HGDP/1KG) subset .
https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/ · Dataset page · checked 2026-11-13
- The page states that combining the datasets introduces challenges related to datasets that differ in sequencing and processing methods and exhibit variations in sample composition due to ascertainment biases.
gnomad.broadinstitute.org ·
However, it also introduces challenges related to integrating datasets that not only differ in their sequencing and processing methods, but also exhibit variations in sample composition due to ascertainment biases.
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · Dataset page · checked 2026-11-13
- The page states that indels generally tend to have less stable frequency estimates, likely because most indels in gnomAD tend to occur in low-complexity regions or in regions overlapping a segmental duplication.
gnomad.broadinstitute.org ·
In addition, indels generally tend to have less stable frequency estimates 1 , likely because most of the indels in gnomAD tend to occur in low-complexity regions or in regions overlapping a segmental duplication (see flags ).
https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ · Dataset page · checked 2026-11-13
- Gudmundsson et al.: genes with close paralogs, pseudogenes or segmental duplications may have short-read mapping problems that inflate observed variant counts.
pmc.ncbi.nlm.nih.gov ·
However, genes with highly similar paralogs, pseudogenes, or segmental duplications may have mapping challenges with short read data that can inflate observed variant counts.
https://pmc.ncbi.nlm.nih.gov/articles/PMC9160216/ · peer-reviewed-paper · checked 2026-11-14
- An allele count of 0 or missing can mean no data (e.g. outside exome capture), no alternate calls, or no high-quality calls.
raw.githubusercontent.com ·
There are three reasons why a variant will have an allele count of 0 or an undefined (missing) allele count (indicated by `-`):
https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/allele-count-zero.md · Dataset page · checked 2026-11-14
Suited for
- The page states that users can freely download and search the data and encourages the use and publication of results generated from these data.
gnomad.broadinstitute.org ·
You can freely download and search the data, and we encourage the use and publication of results generated from these data.
https://gnomad.broadinstitute.org/policies · Terms of use page · checked 2026-11-13
- The page states that in use cases involving querying a relatively small number of records with low latency, using the API to request records as needed may be more suitable than working with downloaded gnomAD data.
gnomad.broadinstitute.org ·
In use cases involving querying a relatively small number of records with low latency, using the API to request records as needed may be more suitable than working with downloaded gnomAD data.
https://gnomad.broadinstitute.org/downloads · Dataset page · checked 2026-11-13
- The filtering allele frequency (FAF) is intended for filtering variants against a disease-specific frequency threshold (e.g. ACMG/AMP BA1); it is not computed for bottlenecked groups (ami, asj, fin, rmi).
raw.githubusercontent.com ·
This annotation can be used for filtering variants by allele frequency against a disease-specific threshold that can be set for each disease (e.g. BA1 in the 2015 ACMG/AMP guidelines).
https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/faf.md · Dataset page · checked 2026-11-14
Not suited for
- The page states that, given the large size of gnomAD v4 and the small size of any single cohort, it does not consider the prevalence of any disease high enough to warrant subsets.
gnomad.broadinstitute.org ·
given the large size of gnomAD v4 and the small size of any single cohort, we do not feel that the prevalence of any disease is high enough to warrant subsets.
https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/ · Dataset page · checked 2026-11-13
- The page states that for querying a relatively small number of records with low latency, working with downloaded gnomAD data may be less suitable than using the API.
gnomad.broadinstitute.org ·
In use cases involving querying a relatively small number of records with low latency, using the API to request records as needed may be more suitable than working with downloaded gnomAD data.
https://gnomad.broadinstitute.org/downloads · Dataset page · checked 2026-11-13
gnomAD license evidence 11
Separable restricted part(s) recorded in license_parts
-
Terms of use pagePage opened
Third-party text · Terms of use page
All data here are released openly and publicly for the benefit of the wider biomedical community.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
Third-party text · Terms of use page
There are absolutely no restrictions or embargoes on the publication of results derived from gnomAD data.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
Third-party text · Terms of use page
All users of gnomAD data agree to not attempt to reidentify participants.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
CC0-1.0Third-party text · Terms of use page
The primary data from the gnomAD exomes and genomes are available free of restrictions under the Creative Commons Zero Public Domain Dedication.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
Third-party text · Terms of use page
Screenshots of the website may also be used without restriction.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
CC-BY-NC-4.0Third-party text · Terms of use page
Some annotations may have restrictions on usage. For instance, SpliceAI annotations have been computed by Illumina and are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use SpliceAI.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
Third-party text · Terms of use page
we ask that you refrain from incorporating "gnomAD" or "Genome Aggregation Database'' into the name of your tool and from using the gnomAD logo without permission.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
Third-party text · Terms of use page
gnomAD™ is a trademark owned by The Broad Institute, Inc.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
Third-party text · Terms of use page
It is the responsibility of users to abide by all relevant licensing requirements.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
Third-party text · Terms of use page
Some annotations may have restrictions on usage.
Statement found in snapshot s01 (terms-page)
-
Terms of use pagePage opened
Third-party text · Terms of use page
For instance, SpliceAI annotations have been computed by Illumina and are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use SpliceAI.
Statement found in snapshot s01 (terms-page)
Source and lineage
No upstream or downstream datasets recorded.
Known issues with gnomAD
- Variant calling and filtering from short-read sequencing data is an imperfect and probabilistic process, so many errors may remain.
Preflight
Not run Runs only on ingested data; says nothing about quality.
Downloading gnomAD and API access
No file on Mdexa (see the verdict). Get it from the source and confirm the terms there:
Latest 4.1.1 · 2 files
curl -L --create-dirs -o "gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz" "https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1.1/vcf/exomes/gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz"
curl -L --create-dirs -o "gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz.tbi" "https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1.1/vcf/exomes/gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz.tbi"Citing gnomAD
Mdexa, gnomAD, https://mdexa.com/datasets/gnomad/, verified 2026-11-13.
More citation details
The source gives no citation text; the line above cites this card.
Machine-readable
gnomad.jsongnomad.mdcatalog.json
Change log 4
| 2026-11-14 | Known defects, version notes and access statements from cited sources (papers, release notes, official pages) were added; each shows who said it, when, and what kind of source it is. | |
| 2026-11-14 | Practical fields (scope, identifiers, access methods, versions, known defects) were added by the automated pipeline from stored page snapshots; every statement carries a verbatim quote. | |
| 2026-11-14 | Known defects, version notes and access statements from cited sources (papers, release notes, official pages) were added; each shows who said it, when, and what kind of source it is. | |
| 2026-11-13 | Listed on 2026-11-13. Judged by public rules and checked a second time before listing. This part could not be retrieved: the later sections of the gnomAD terms page (privacy policy draft, ethics policy, data preservation, data generation, low-frequency allele count statement, citation in publications). The conclusion rests on the part that was retrieved, which holds the CC0 statement and the notes on separate parts. |
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