gwas-database
GWAS Catalog Database — SNP-Trait Association Queries
Overview
The NHGRI-EBI GWAS Catalog is a curated collection of published genome-wide association studies, mapping SNP-trait associations with genomic context. The REST API provides programmatic access to studies, associations, variants, traits, genes, and summary statistics. All responses are HAL+JSON with embedded _links for pagination.
When to Use
- Finding genetic variants associated with a disease or trait (e.g., "which SNPs are linked to type 2 diabetes?")
- Retrieving genome-wide significant associations for a specific variant (rs ID)
- Exploring the genetic architecture of complex traits (number of loci, effect sizes)
- Checking variant pleiotropy (how many traits a single SNP affects)
- Downloading summary statistics for meta-analysis or polygenic risk score construction
- Identifying published GWAS studies by disease, gene, or PubMed ID
- Cross-referencing EFO trait ontology terms with GWAS evidence
- Building candidate gene lists from GWAS association regions
- For drug target validation from GWAS hits, use
opentargets-databaseinstead - For variant functional annotation (consequence prediction, regulatory impact), use Ensembl VEP via
gget
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