alterlab-clinvar
CommunityAccess ClinVar variant interpretations programmatically.
AuthorAlterLab-IEU
Version1.0.0
Installs0
System Documentation
What problem does it solve?
ClinVar hosts a large, evolving collection of variant interpretations. Researchers need a reliable way to query, summarize, and integrate these records into pipelines without manual web browsing.
Core Features & Use Cases
- Programmatic search, summarize, and retrieval of ClinVar records via E-utilities, FTP, and web services.
- Annotate research variant lists with clinical significance, review status, and gene associations across germline, somatic, and related contexts.
- Use Case: load large variant lists from sequencing studies to fetch summaries and integrate ClinVar data into analysis workflows.
Quick Start
Query ClinVar for BRCA1 pathogenic variants and fetch summaries to annotate a local variant list.
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: alterlab-clinvar Download link: https://github.com/AlterLab-IEU/AlterLab-Academic-Skills/archive/main.zip#alterlab-clinvar Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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