is a Data Source.
A reference catalogue of human genetic variation, aggregating and harmonizing exome and genome sequencing data from large-scale sequencing projects to provide population allele frequencies and gene-level constraint metrics.
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| gnomad.browser | gnomAD browser | gnomad.broadinstitute.org | Graphical Interface | http | The gnomAD browser, providing search ... |
| gnomad.downloads | gnomAD data downloads | downloads | Product | vcf | Bulk downloads of gnomAD variant data... |
| gnomad.api | gnomAD GraphQL API | api | Programming Interface | graphql | A public GraphQL API for programmatic... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| sniff.federation-nodes | Sniff KGX federation export, nodes | sniff_nodes.tsv (3.6 MB) | Graph | kgx | was derived from | A Biolink-conformant KGX TSV node fil... |
| myvariant.api | MyVariant.info API | query | Programming Interface | http | had primary source | MyVariant.info REST API (v1) for vari... |
| dbnsfp.academic | dbNSFP Academic Branch | download | Product | tsv | had primary source | Academic branch of dbNSFP (v5.4a at t... |
| dbnsfp.commercial | dbNSFP Commercial Branch | license | Product | tsv | had primary source | Commercial branch of dbNSFP (v5.4c at... |
| cadd.gnomad-indels.grch38 | CADD v1.7 gnomAD v4.0 InDel Scores (GRCh38) | gnomad.genomes.r4.0.indel.tsv.gz (1.2 GB) | Product | tsv | had primary source | CADD v1.7 scores for small insertions... |
| pavs-kg.sparql | PAVS SPARQL Endpoint | sparql | Programming Interface | http | had primary source | Public Virtuoso SPARQL endpoint for t... |
| pavs-kg.portal | PAVS Web Portal | pavs.phenomebrowser.net | Graphical Interface | http | had primary source | PAVS web portal with phenotype-based ... |
| pavs-kg.api | PAVS REST API | docs | Programming Interface | http | had primary source | FastAPI REST API backing the PAVS por... |
| pavs-kg.phenopackets | PAVS Phenopackets | PAVS_phenopackets.json (1.8 MB) | Product | json | had primary source | Combined GA4GH Phenopackets v2 JSON f... |
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators to aggregate and harmonize exome and genome sequencing data from a wide variety of large-scale sequencing projects. It is hosted by the Broad Institute.
The v4.1 dataset, aligned to GRCh38, spans 730,947 exome sequences and 76,215 whole-genome sequences from unrelated individuals of diverse ancestries. gnomAD is widely used as a population reference for variant interpretation, providing allele frequencies stratified by genetic ancestry group alongside gene-level constraint metrics.
Primary data from the gnomAD exomes and genomes are released free of restrictions under the Creative Commons Zero Public Domain Dedication, though the project requests attribution where possible.
Created: August 12, 2026 | Last modified: September 23, 2026