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variant-evidence

Analyze genetic variants using Active Genome Index and public genetics databases.

475|61|Updated May 28, 2026
Search Tags:#genomics#variant analysis#genetic evidence#genetic research#active genome index
One-click install
npx skills add https://github.com/exon-research/genomi --skill variant-evidence
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: variant-evidence
Source: https://github.com/exon-research/genomi/tree/main/skills/variant-evidence
Command: npx skills add https://github.com/exon-research/genomi --skill variant-evidence

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes scripts (resource) and references (resource) and assets (resource) components.

What problem does it solve?

This Skill simplifies the process of answering questions about genetic variants and genes by providing access to detailed context and evidence, facilitating personal interpretations without requiring the user to sift through extensive data manually.

Core Features & Use Cases

  • Answer Specific Genetic Questions: Offers detailed answers to specific questions about rsIDs, alleles, genes, genomic regions, and genotypes.
  • Active Genome Index Utilization: Leverages personal genetic data from an Active Genome Index to provide personalized answers.
  • Public Evidence Access: Accesses public genetics evidence to provide context beyond personal data.
  • Use Case: When a user has a genetic question, such as 'Do I carry a particular allele that could be linked to a health condition?', the skill can provide an evidence-based answer that includes both the user's personal genetic information and relevant public evidence.

Quick Start

Ask about a specific variant, such as 'What does my genetic makeup say about my risk for breast cancer?'

Frequently Asked Questions about variant-evidence

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I analyze genetic variants and find evidence for specific rsIDs?▼

To analyze genetic variants, you query specific rsIDs, alleles, or genes against an Active Genome Index and public genetics databases. The system cross-references sample data, ClinVar, population, and reviewed-source data to provide evidence-based interpretations.

What is genetic variant evidence and how does it support personal interpretation?▼

Genetic variant evidence combines personal genomic data from an Active Genome Index with public genetics databases like ClinVar. This contextual data allows you to understand specific alleles and genomic regions without manually sifting through extensive research.

Can I use my own genomic data to check if I carry a particular allele linked to a health condition?▼

Yes, you can check for specific alleles by leveraging personal genetic data within an Active Genome Index. The system queries this data alongside public evidence to answer health-related genetic questions and provide personalized context.

How do I query a specific genomic region for population and reviewed-source data?▼

You query a genomic region by asking the system to analyze that specific location against the Active Genome Index. It retrieves and synthesizes population data, ClinVar records, and reviewed-source information to deliver accurate variant analysis.

What public genetics databases are referenced for variant analysis?▼

Variant analysis references public genetics databases including ClinVar, population frequency databases, and reviewed-source data. These sources are combined with your Active Genome Index sample data to ensure accurate and comprehensive genetic interpretations.

Do I need an Active Genome Index to get evidence-based answers about my genetic makeup?▼

Yes, an Active Genome Index is required to provide personalized answers about your genetic makeup. It supplies the personal genetic data that is cross-referenced with public evidence to generate accurate interpretations of your variants.

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