Query the GWAS Catalog REST API for SNP-trait associations and study metadata.
npx skills add https://github.com/Hung-3008/agusta --skill gwas-database-hung-3008
Please help me install this Agent Skill. Skill: gwas-database Source: https://github.com/Hung-3008/agusta/tree/main/.agents/skills/gwas-database Command: npx skills add https://github.com/Hung-3008/agusta --skill gwas-database-hung-3008
The GWAS Catalog provides a centralized repository of published genome-wide association studies and variant-trait associations. This Skill enables programmatic access to search SNP-trait associations, retrieve variant details and study metadata, and obtain summary statistics for genetic epidemiology and polygenic risk score workflows.
Query GWAS Catalog trait associations via the REST API, for example retrieving all associations for EFO_0001360 and inspecting the top hits.
High-intent search queries and answers about installing and using this skill.
Query GWAS Catalog associations by rs IDs, EFO trait terms, genes, or genomic regions using the REST API to retrieve variant details, p-values, and effect sizes. The API endpoints for studies, associations, variants, and traits support pagination and HAL links for navigation.
Summary statistics are accessed via a separate API endpoint provided by the GWAS Catalog. This dedicated API allows you to retrieve detailed statistical data for genetic epidemiology and polygenic risk score workflows alongside the standard association endpoints.
SNP-trait associations include p-values, odds ratios or beta effects, as well as study size and ancestry information. These metrics support downstream analyses for genetic epidemiology and polygenic risk score workflows, providing comprehensive statistical context for each variant.
Cross-reference GWAS Catalog results with external resources like Ensembl, dbSNP, and gnomAD to enrich genomic context and interpretation. This cross-referencing supports both REST API access and web interface workflows for flexible data retrieval and validation.
The GWAS Catalog REST API supports pagination and HAL links for navigating large query results across studies, associations, variants, and traits endpoints. This allows efficient retrieval of extensive SNP-trait association datasets without overwhelming the response payload.
Query the GWAS Catalog REST API by traits or genomic regions to obtain study size, ancestry information, and summary statistics for polygenic risk score workflows. This programmatic access enables systematic data collection for downstream genetic epidemiology analyses.
LeonChaoXQuery NHGRI-EBI GWAS Catalog REST API for SNP-to-trait and gene-to-trait associations.
sagunkayasthaQuery the NHGRI-EBI GWAS Catalog for SNP-trait associations by rs ID, disease, or gene.
MubasherMohammedAnnotate genomic variants in VCF files using Ensembl VEP, ClinVar, and gnomAD APIs.
jaechang-hitsQuery the NHGRI-EBI GWAS Catalog REST API for SNP-trait associations and studies.
