SN

snp_functional_analysis

Automates functional impact analysis of SNPs, including VEP predictions and phenotype associations.

Install

mkdir -p .claude/skills/snp-functional-analysis && curl -L -o skill.zip "https://agentskills.codes/api/skills/download/12201" && unzip -o skill.zip -d .claude/skills/snp-functional-analysis && rm skill.zip

Installs to .claude/skills/snp-functional-analysis

Activation

This is the description your AI agent reads to decide when to run this skill — the better it matches your request, the more reliably it fires.

SNP Functional Impact Analysis - Analyze SNP function: VEP prediction, variation details, phenotype association, and literature evidence. Use this skill for functional genomics tasks involving get vep id get variation get phenotype accession pubmed search. Combines 4 tools from 2 SCP server(s).
295 chars✓ has a “when” triggerlonger than Claude Code's old 250-char listing cap (fine on current versions)
Beginner

Key capabilities

  • Predict functional effects of SNPs using VEP
  • Retrieve variant details from Ensembl
  • Obtain phenotype associations from Ensembl
  • Search PubMed for scientific literature evidence

How it works

The skill executes a four-step workflow: predicting functional effects with VEP, getting variant details, getting phenotype associations, and searching PubMed for evidence.

Inputs & outputs

You give it
variant_id (e.g., "rs1800497") and species (e.g., "homo_sapiens")
You get back
Functional effects, variant details, phenotype associations, and PubMed search results

When to use snp_functional_analysis

  • Predict functional effects of SNPs
  • Search for phenotype associations
  • Retrieve variant details
  • Search literature for evidence

About this skill

SNP Functional Impact Analysis

Discipline: Functional Genomics | Tools Used: 4 | Servers: 2

Description

Analyze SNP function: VEP prediction, variation details, phenotype association, and literature evidence.

Tools Used

  • get_vep_id from ensembl-server (streamable-http) - https://scp.intern-ai.org.cn/api/v1/mcp/12/Origene-Ensembl
  • get_variation from ensembl-server (streamable-http) - https://scp.intern-ai.org.cn/api/v1/mcp/12/Origene-Ensembl
  • get_phenotype_accession from ensembl-server (streamable-http) - https://scp.intern-ai.org.cn/api/v1/mcp/12/Origene-Ensembl
  • pubmed_search from search-server (streamable-http) - https://scp.intern-ai.org.cn/api/v1/mcp/7/Origene-Search

Workflow

  1. Predict functional effects with VEP
  2. Get variant details
  3. Get phenotype associations
  4. Search PubMed for evidence

Test Case

Input

{
    "variant_id": "rs1800497",
    "species": "homo_sapiens"
}

Expected Steps

  1. Predict functional effects with VEP
  2. Get variant details
  3. Get phenotype associations
  4. Search PubMed for evidence

Usage Example

Note: Replace sk-b04409a1-b32b-4511-9aeb-22980abdc05c with your own SCP Hub API Key. You can obtain one from the SCP Platform.

import asyncio
import json
from contextlib import AsyncExitStack
from mcp import ClientSession
from mcp.client.streamable_http import streamablehttp_client
from mcp.client.sse import sse_client

SERVERS = {
    "ensembl-server": "https://scp.intern-ai.org.cn/api/v1/mcp/12/Origene-Ensembl",
    "search-server": "https://scp.intern-ai.org.cn/api/v1/mcp/7/Origene-Search"
}

async def connect(url, stack):
    transport = streamablehttp_client(url=url, headers={"SCP-HUB-API-KEY": "sk-b04409a1-b32b-4511-9aeb-22980abdc05c"})
    read, write, _ = await stack.enter_async_context(transport)
    ctx = ClientSession(read, write)
    session = await stack.enter_async_context(ctx)
    await session.initialize()
    return session

def parse(result):
    try:
        if hasattr(result, 'content') and result.content:
            c = result.content[0]
            if hasattr(c, 'text'):
                try: return json.loads(c.text)
                except: return c.text
        return str(result)
    except: return str(result)

async def main():
    async with AsyncExitStack() as stack:
        # Connect to required servers
        sessions = {}
        sessions["ensembl-server"] = await connect("https://scp.intern-ai.org.cn/api/v1/mcp/12/Origene-Ensembl", stack)
        sessions["search-server"] = await connect("https://scp.intern-ai.org.cn/api/v1/mcp/7/Origene-Search", stack)

        # Execute workflow steps
        # Step 1: Predict functional effects with VEP
        result_1 = await sessions["ensembl-server"].call_tool("get_vep_id", arguments={})
        data_1 = parse(result_1)
        print(f"Step 1 result: {json.dumps(data_1, indent=2, ensure_ascii=False)[:500]}")

        # Step 2: Get variant details
        result_2 = await sessions["ensembl-server"].call_tool("get_variation", arguments={})
        data_2 = parse(result_2)
        print(f"Step 2 result: {json.dumps(data_2, indent=2, ensure_ascii=False)[:500]}")

        # Step 3: Get phenotype associations
        result_3 = await sessions["ensembl-server"].call_tool("get_phenotype_accession", arguments={})
        data_3 = parse(result_3)
        print(f"Step 3 result: {json.dumps(data_3, indent=2, ensure_ascii=False)[:500]}")

        # Step 4: Search PubMed for evidence
        result_4 = await sessions["search-server"].call_tool("pubmed_search", arguments={})
        data_4 = parse(result_4)
        print(f"Step 4 result: {json.dumps(data_4, indent=2, ensure_ascii=False)[:500]}")

        # Cleanup
        print("Workflow complete!")

if __name__ == "__main__":
    asyncio.run(main())

When not to use it

  • When only needing to search PubMed for general articles
  • When only needing to retrieve variant details without functional analysis

Limitations

  • Analysis is limited to the data available through the Ensembl and PubMed servers.
  • The skill only performs the specified four steps without further interpretation or analysis.

How it compares

This skill combines multiple bioinformatics tools and a literature search into a single workflow, automating the process of gathering complete functional impact data for SNPs.

Compared to similar skills

snp_functional_analysis side by side with the closest alternatives in the catalog.

SkillInstallsUpdatedSafetyDifficulty
snp_functional_analysis (this skill)04moNo flagsBeginner
literature-review5592moReviewAdvanced
openalex-database487moReviewIntermediate
scientific-critical-thinking187moReviewAdvanced

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