
Skill
genebass-gene-burden-skill
fetch Genebass gene burden and PheWAS summaries
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.pyfor all Genebass calls. - This skill accepts one Ensembl gene ID per invocation.
max_resultsis flexible; start around25for 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, andsynonymous, with the aliases already handled by the script. - If the user needs the full result set, increase
max_resultsdeliberately 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 compactassociations. - Failure returns
ok=falsewitherror.codeanderror.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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