db-clinvar
OfficialQuery ClinVar for variant significance.
Authorbiomaps-infra
Version1.0.0
Installs0
System Documentation
What problem does it solve?
This Skill helps researchers and clinicians quickly access and interpret clinical significance data for genetic variants from the NCBI ClinVar database, streamlining genomic data analysis and interpretation.
Core Features & Use Cases
- Variant Search: Find variants by gene, position, or clinical significance.
- Interpretation: Understand pathogenicity classifications and review status.
- Data Access: Utilize E-utilities API or download bulk data via FTP.
- Use Case: A geneticist needs to determine if a specific variant in the BRCA1 gene is pathogenic for a patient. They use this Skill to query ClinVar, retrieve the variant's classification, and review the supporting evidence.
Quick Start
Use the db-clinvar skill to search for pathogenic variants in the BRCA1 gene.
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: db-clinvar Download link: https://github.com/biomaps-infra/blender-opencode/archive/main.zip#db-clinvar Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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