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Skill

genebass-gene-burden-skill

fetch Genebass gene burden and PheWAS summaries

Published by OpenAI Updated Apr 10
Covers Genebass Life Sciences Bioinformatics Genetics PheWAS

Description

Submit compact Genebass gene burden requests for one Ensembl gene ID and one burden set. Use when a user wants concise Genebass PheWAS summaries

SKILL.md

Operating rules

  • Use scripts/genebass_gene_burden.py for all Genebass calls.
  • This skill accepts one Ensembl gene ID per invocation.
  • max_results is flexible; start around 25 for broad summaries and increase only if the user explicitly wants more associations.
  • 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 raw JSON only if the user explicitly asks for machine-readable output.
  • Supported burden sets are pLoF, missense|LC, and synonymous, with the aliases already handled by the script.
  • If the user needs the full result set, increase max_results deliberately instead of dumping everything by default.

Input

  • Read JSON from stdin as either a string Ensembl ID or an object.
  • String form:
    • "ENSG00000173531"
  • Object form:
    • {"ensembl_gene_id":"ENSG00000173531","burden_set":"pLoF","max_results":25}

Output

  • Success returns ok, source, input metadata, gene, association counts, truncated, and compact associations.
  • Failure returns ok=false with error.code and error.message.

Execution

echo '{"ensembl_gene_id":"ENSG00000173531","burden_set":"pLoF","max_results":25}' | python scripts/genebass_gene_burden.py

References

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

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