
Skill
clinvar-variation-skill
lookup clinical significance of genetic variants in ClinVar
Description
Submit compact ClinVar Clinical Tables and NCBI Variation requests for search, VCV, RCV, SCV, and RefSNP lookups. Use when a user wants variant-level summaries or identifier mapping
SKILL.md
Operating rules
- Use
scripts/clinvar_variation.pyfor all ClinVar and NCBI Variation work. - The script accepts
max_items; foraction=search, start aroundmax_items=10. - For
vcv,rcv,scv, andrefsnp, omitmax_itemsunless you need to trim nested arrays in the summary. - Re-run requests in long conversations instead of relying on prior tool output.
- Treat displayed
...in tool previews as UI truncation, not literal request content. - If the user asks for full JSON, set
save_raw=trueand report the saved file path instead of pasting large payloads into chat.
Execution behavior
- Return concise markdown summaries from the script JSON by default.
- Return the JSON verbatim only if the user explicitly asks for machine-readable output.
- Use
action=searchfor the Clinical Tables endpoint. - Use
action=vcv|rcv|scv|refsnpfor NCBI Variation beta objects.
Input
- Read one JSON object from stdin.
- Required field:
action - Action-specific required fields:
search:termsvcv:vcvrcv:rcvscv:scvrefsnp:refsnp
- Optional fields:
params,max_items,max_depth,timeout_sec,save_raw,raw_output_path
Output
searchreturnstotal,identifiers,display_rows,extra_fields, and truncation metadata.vcv|rcv|scv|refsnpreturn a compactsummaryand optionaltop_keys.- Use
raw_output_pathwhensave_raw=true. - Failures return
ok=falsewitherror.codeanderror.message.
Execution
echo '{"action":"search","terms":"VCV000013080","max_items":10}' | python scripts/clinvar_variation.py
References
- No additional runtime references are required; keep the import package limited to this file and
scripts/clinvar_variation.py.
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