clinvar-database
CommunityClinVar variant interpretation toolkit
Authorovachiever
Version1.0.0
Installs0
System Documentation
What problem does it solve?
ClinVar data is essential for understanding clinical significance of genetic variants; this skill helps query ClinVar via E-utilities, download bulk data, and annotate variant calls.
Core Features & Use Cases
- ClinVar search & web/API access: esearch/esummary/efetch workflows
- Clinical significance interpretation: reference to ClinVar sign and review status
- Data acquisition: FTP bulk downloads for XML/VCV/VCF formats
- Variant annotation pipelines: integration of ClinVar data into pipelines
Quick Start
Retrieve a specific pathogenic BRCA1 variant using the E-utilities endpoint: python skills/clinvar-database/references/api_reference.md -- Not actual; Use curl to query esearch.
Dependency Matrix
Required Modules
None requiredComponents
references
💻 Claude Code Installation
Recommended: Let Claude install automatically. Simply copy and paste the text below to Claude Code.
Please help me install this Skill: Name: clinvar-database Download link: https://github.com/ovachiever/droid-tings/archive/main.zip#clinvar-database Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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