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gtex-eqtl-skill

Retrieve GTEx associations between a genetic variant and gene expression in individual tissues. Supply one rsID or genome coordinate, and receive JSON with the resolved variant, association rows, counts, and warnings.

OriginalShow the original description

Fetch GTEx single-tissue eQTL associations from one variant input by accepting rsID, GRCh37, or GRCh38 input and resolving to the required GRCh38 query for the GTEx v2 API. Use when a user wants eQTL associations returned as JSON.

See how to install

Good for

  • Retrieve tissue-specific eQTL associations for an rsID
  • Query GTEx using GRCh37 coordinates
  • Limit association rows returned as JSON

Files included (4)

  • SKILL.md1.9 KB
  • agents/openai.yaml91 B
  • scripts/gtex_eqtl.py4.3 KB
  • scripts/variant_resolution.py11.9 KB

SKILL.md (original)

Review the instructions the agent will receive before you install.

Operating rules

  • Use Python requests for all network calls.
  • Accept exactly one of rsid, grch37, grch38, or variant, and resolve to a GRCh38 chrom-pos-ref-alt query.
  • Convert to GTEx variantId format: chr{chrom}_{pos}_{ref}_{alt}_b38.
  • Always return one JSON object (no markdown) as final output.

Input

Accept JSON on stdin as either:

  • A string: "10-112998590-C-T" (treated as GRCh38)
  • An object:
{
  "grch38": "10-112998590-C-T",
  "max_results": 200
}

Other accepted object forms include:

{
  "grch37": "10-114758349-C-T"
}
{
  "rsid": "rs7903146",
  "max_results": 50
}

Allowed variant separators include -, :, _, /, or whitespace, for example:

  • 10-112998590-C-T
  • 10:112998590-C-T
  • 10:112998590:C:T
  • chr10 112998590 C T

max_results is optional and truncates returned eQTL rows when provided.

Output

Success shape:

{
  "ok": true,
  "source": "gtex-v2",
  "input": {"type": "grch38", "value": "10-112998590-C-T"},
  "query_variant": {
    "chr": "10",
    "pos": 112998590,
    "ref": "C",
    "alt": "T",
    "canonical": "10:112998590-C-T",
    "variant_id": "chr10_112998590_C_T_b38"
  },
  "eqtl_count": 2,
  "eqtl_count_total": 2,
  "truncated": false,
  "eqtls": [],
  "paging_info": {},
  "warnings": []
}

Failure shape:

{
  "ok": false,
  "error": {"code": "...", "message": "..."},
  "warnings": []
}

Execution

Use:

  • scripts/gtex_eqtl.py

The script reads JSON from stdin and prints JSON to stdout.

Example:

echo '{"grch38":"10-112998590-C-T","max_results":5}' | python scripts/gtex_eqtl.py

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