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gwas-database - Query GWAS Catalog genetic associations

Query the NHGRI-EBI GWAS Catalog for SNP-trait associations, variants, study metadata, p-values, and summary statistics.

Tags

Updated: 2026-10-06

Capabilities

Typical Inputs

Typical Outputs

What this skill does

  • Search variant associations
  • Retrieve variant details
  • Search traits and diseases
  • Find gene-region variants
  • Retrieve study metadata
  • Access summary statistics

Inputs

  • rs IDs
  • Disease or trait names
  • Gene symbols
  • EFO terms
  • Genomic regions
  • Study accessions
  • Publication identifiers
  • P-value filters
  • Population information

Outputs

  • SNP-trait associations
  • Variant information
  • Trait information
  • Study metadata
  • P-values and effect sizes
  • Summary statistics
  • Publication and cohort information

Requirements

  • Network access to GWAS Catalog APIs
  • Access to summary statistics resources

Source

  • Spec: SKILL.md
GWAS
genetic associations
SNP
variants
traits
summary statistics
genetic epidemiology
Search variant associations
Retrieve variant details
Search traits and diseases
Find gene-region variants
rs IDs
Disease or trait names
Gene symbols
SNP-trait associations
Variant information
Trait information