gwas-database

Query SNP-trait associations by rs ID, disease, trait, gene, or chromosomal region. The Skill retrieves p-values, effect sizes, and study metadata from the NHGRI-EBI GWAS Catalog REST API, enabling rapid lookup for genetic epidemiology and polygenic risk score workflows.

GWAS summary statistics include p-values, effect sizes, study metadata, publication details, cohort information, and ancestries. The Skill aggregates these across SNP-trait associations, supporting large-scale genetic epidemiology analysis and downstream PRS calculations.

Yes. The Skill supports rate-limited, batched retrieval via HAL-formatted JSON responses and pagination. It processes REST API access patterns (GET endpoints, projection filters) to enable efficient aggregation of associations for multiple variants or traits.

The GWAS Catalog returns HAL-formatted JSON responses. The Skill processes these standardized JSON structures with pagination and projection filters, making results compatible with downstream analytics pipelines and genetic epidemiology tools.

Basic familiarity with GWAS concepts (SNPs, traits, p-values) helps, but the Skill abstracts REST API complexity. It handles pagination, rate limiting, and response parsing, lowering the barrier for researchers integrating GWAS data into epidemiological workflows.

Rate limiting applies to GWAS Catalog API requests. For large-scale analyses across many variants or traits, batch queries strategically and implement pagination to avoid throttling. The Skill manages these constraints but queries may require staged retrieval.