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Skill

gwas-catalog-skill

request genetic associations from GWAS Catalog

Published by OpenAI Updated Apr 10
Covers Research Life Sciences Bioinformatics API Development

Description

Submit compact GWAS Catalog REST API v2 requests for studies, associations, SNPs, EFO traits, genes, publications, loci, and metadata. Use when a user wants concise GWAS Catalog summaries

SKILL.md

Operating rules

  • Use scripts/rest_request.py for all GWAS Catalog API calls.
  • Use base_url=https://www.ebi.ac.uk/gwas/rest/api/v2.
  • The script accepts max_items; for collection endpoints, start with API size=10 and max_items=10.
  • Single-resource endpoints such as studies/<accession> generally do not need max_items.
  • Use record_path to target _embedded.<resource> lists.
  • Re-run requests in long conversations instead of relying on older tool output.
  • Treat displayed ... in tool previews as UI truncation, not literal request content.

Execution behavior

  • Return concise markdown summaries from the script JSON by default.
  • Return the script JSON verbatim only if the user explicitly asks for machine-readable output.
  • Prefer these paths: metadata, studies, studies/<accession>, associations, snps, efoTraits, genes, publications, and loci.
  • Use save_raw=true if the user needs the full HATEOAS payload or pagination links.

Input

  • Read one JSON object from stdin.
  • Required fields: base_url, path
  • Optional fields: method, params, headers, json_body, form_body, record_path, response_format, max_items, max_depth, timeout_sec, save_raw, raw_output_path
  • Common GWAS Catalog patterns:
    • {"base_url":"https://www.ebi.ac.uk/gwas/rest/api/v2","path":"metadata"}
    • {"base_url":"https://www.ebi.ac.uk/gwas/rest/api/v2","path":"studies","params":{"efo_trait":"asthma","size":10},"record_path":"_embedded.studies","max_items":10}
    • {"base_url":"https://www.ebi.ac.uk/gwas/rest/api/v2","path":"associations","params":{"mapped_gene":"BRCA1","size":10},"record_path":"_embedded.associations","max_items":10}

Output

  • Success returns ok, source, path, method, status_code, warnings, and either compact records or a compact summary.
  • Use raw_output_path when save_raw=true.
  • Failure returns ok=false with error.code and error.message.

Execution

echo '{"base_url":"https://www.ebi.ac.uk/gwas/rest/api/v2","path":"studies","params":{"efo_trait":"asthma","size":10},"record_path":"_embedded.studies","max_items":10}' | python scripts/rest_request.py

References

  • No additional runtime references are required; keep the import package limited to this file and scripts/rest_request.py.

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