{"id":12170,"plugin_id":"Plugin_054ff933a434819187c4f95db80afc7f","kind":"skill","collection_source":null,"comparison_source":null,"observed_at":"2026-09-30T23:00:59.966Z","digest":"ec1d87c663443942624d63806c3ae535ac3e805ec94719d4ad6877a860adb736","against":null,"payload":{"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","included_files":[{"relative_path":"scripts/genebass_gene_burden.py","size_in_bytes":10629}],"name":"genebass-gene-burden-skill","skill_md_contents":"---\nname: genebass-gene-burden-skill\ndescription: Submit compact Genebass gene burden requests for one Ensembl gene ID and one burden set. Use when a user wants concise Genebass PheWAS summaries\n---\n\n## Source presentation\n<!-- source-presentation-contract:v2 -->\n- Add claim-adjacent links only for substantive claims supported by returned `sources`; never cite empty, metadata-only, or failed lookups.\n- Preserve `checked_sources`, use only supported `canonical_url` mappings, and leave requested raw or machine-readable output unchanged.\n- Use the `genebass-gene-burden-skill` entry in `../../references/source-links.json` and follow `../../references/source-presentation.md`.\n\n## Operating rules\n- Use `scripts/genebass_gene_burden.py` for all Genebass calls.\n- This skill accepts one Ensembl gene ID per invocation.\n- `max_results` is flexible; start around `25` for broad summaries and increase only if the user explicitly wants more associations.\n- Re-run requests in long conversations instead of relying on older tool output.\n- Treat displayed `...` in tool previews as UI truncation, not literal request content.\n\n## Execution behavior\n- Return concise markdown summaries from the script JSON by default.\n- Return raw JSON only if the user explicitly asks for machine-readable output.\n- Supported burden sets are `pLoF`, `missense|LC`, and `synonymous`, with the aliases already handled by the script.\n- If the user needs the full result set, increase `max_results` deliberately instead of dumping everything by default.\n\n## Input\n- Read JSON from stdin as either a string Ensembl ID or an object.\n- String form:\n  - `\"ENSG00000173531\"`\n- Object form:\n  - `{\"ensembl_gene_id\":\"ENSG00000173531\",\"burden_set\":\"pLoF\",\"max_results\":25}`\n\n## Output\n- Success returns `ok`, `source`, input metadata, `gene`, association counts, `truncated`, and compact `associations`.\n- Failure returns `ok=false` with `error.code` and `error.message`.\n\n## Execution\n```bash\necho '{\"ensembl_gene_id\":\"ENSG00000173531\",\"burden_set\":\"pLoF\",\"max_results\":25}' | python scripts/genebass_gene_burden.py\n```\n"},"changes":[],"summary":"First saved snapshot. No earlier version is available for comparison.","summary_kind":"deterministic","summary_metadata":{}}