clinvar-database

Community

ClinVar 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 required

Components

references

💻 Claude Code Installation

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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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