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-database instead
• For variant functional annotation (consequence prediction, regulatory impact), use Ensembl VEP via gget