folklore-variant-evidence
Lets your agent check genetic and disease information. It analyzes scientific evidence for specific genetic variants.
What it does
This tool retrieves detailed information about a specific genetic variation. It finds public scientific evidence and reviews literature related to that variation.
When to use it
- ✓When you have a genetic variation and want to know what science says about it.
- ✓When searching for studies and public data related to a variation.
- ✓To get information about the link between a gene and a disease.
Example of what to ask your AI
“Tell me what science knows about the genetic variation rs80357914.”
Want more? Open the sections below.
How to use
The easiest way: copy the message below and paste it into Claude, ChatGPT, Cursor or any AI. It reads the skill and follows the instructions.
Skill link
Ready-to-paste message
How it works
The tool uses a system called Folklore Clinical Variant Interpretation MCP to search for public data. It looks for evidence and scientific articles that mention the variation you provided.
Installation
Easiest way: copy the skill link and paste it into Claude, ChatGPT or Cursor asking it to follow the instructions.
In the terminal (Claude Code, Codex, Cursor), in your project folder:
npx skills add K-Dense-AI/scientific-agent-skills --skill folklore-variant-evidenceOr download just the file:
curl -L https://raw.githubusercontent.com/K-Dense-AI/scientific-agent-skills/main/skills/folklore-variant-evidence/SKILL.md -o SKILL.mdTechnical content (original SKILL.md)
Original text by the author, straight from GitHub.
Folklore Variant Evidence
Use Folklore Clinical Variant Interpretation MCP to retrieve structured public variant evidence, automated variant-level ACMG/AMP decision support, provenance, and source-linked literature for professional review. Keep the workflow limited to public identifiers and preserve every explicit outcome state. Adapter 1.5.0 also provides ClinGen Gene-Disease Validity assertions; source coverage is bounded, not every known association.
Folklore Clinical Variant Interpretation MCP is published by Helena Bioinformatics. Its hosted endpoint is:
https://api.helena.bio/folklore/v1/mcp
No account or API key is required. The public Apache-2.0 adapter and contract are available at https://github.com/helena-bioinformatics/folklore-mcp.
Minimal connection example
A host without native MCP support can make the same public JSON-RPC call:
curl --silent --show-error --fail-with-body --max-time 60 \
-X POST https://api.helena.bio/folklore/v1/mcp \
-H 'Content-Type: application/json' \
-H 'Accept: application/json, text/event-stream' \
-H 'MCP-Protocol-Version: 2026-07-28' \
-H 'Mcp-Method: tools/call' \
-H 'Mcp-Name: search_variant_evidence' \
-d '{"jsonrpc":"2.0","id":1,"method":"tools/call","params":{"_meta":{"io.modelcontextprotocol/protocolVersion":"2026-07-28","io.modelcontextprotocol/clientCapabilities":{}},"name":"search_variant_evidence","arguments":{"assembly":"GRCh38","query":"rs80357914"}}}'
The routing headers must match the JSON-RPC method and tool name. A successful
HTTP response is not sufficient: inspect JSON-RPC error, then
result.structuredContent.adapter_error, then this tool's
result.structuredContent.result.status. Other tools use different response
shapes; use the contract table.
Inspect the returned outcome before continuing. This example can return
ambiguous with multiple candidates: stop and request an unambiguous public
variant notation instead of selecting a candidate automatically.
Select the right skill
Use this skill when the task is one public variant to structured Folklore evidence, explicit resolution-state handling, variant-linked literature, or ClinGen gene-to-disease/disease-to-gene assertions.
- Use
database-lookupfor broad direct queries across ClinVar, dbSNP, gnomAD, Ensembl VEP, COSMIC, or multiple databases. - Use
genomic-coordinatesfirst when the assembly, coordinate convention, contig name, or variant representation is uncertain. - Do not use this skill for VCF annotation, batch processing, somatic variants, structural variants, polygenic scores, or patient-specific interpretation.
Folklore Clinical Variant Interpretation MCP complements those skills with one source-linked public evidence contract. It does not replace direct database review or qualified clinical judgment.
Enforce the input boundary
Before a variant tool call:
- Extract exactly one public variant identifier or notation.
- Require GRCh38 and a germline nuclear SNV or simple insertion/deletion shorter
than 50 base pairs. An unsupported assembly may be rejected by the input
schema before any scientific
unsupportedstatus exists. - Remove or refuse patient names, case identifiers, phenotypes, family history, segregation evidence, clinical records, uploaded files, and other private or patient-specific context.
- If the task depends on patient context, stop and explain that Folklore Clinical Variant Interpretation MCP does not accept or evaluate it.
- Never transform a patient-specific request into a public variant query while implying that the result answers the patient-specific question.
Accepted public variant forms include genomic coordinates, genomic/coding/
protein HGVS, SPDI, rsID, or a canonical_key returned by Folklore Clinical
Variant Interpretation MCP.
Verify the live tool catalog
Connect to the hosted endpoint and call tools/list. Verify the available tools
instead of relying on model memory. The documented public catalog contains:
search_variant_evidencesearch_variant_literatureget_publication_detailssearch_literature_corpusget_gene_disease_associationssearch_disease_genes
The separate seventh tool support_helena is not scientific evidence; use it only when explicitly requested.
If discovery or a tool call fails, preserve the failure as an availability problem. Do not reinterpret it as lack of scientific evidence.
…
FAQ
Can I submit patient information?
No, this tool only works with public data and cannot process private patient information like names, medical records, or family history.
What types of genetic variations does it accept?
It accepts specific variations like SNVs (single nucleotide substitutions) or small insertions/deletions (less than 50 base pairs) in the human GRCh38 genome.
What does it mean if the tool finds nothing?
If the tool returns 'not_found', it means there is no registered public information about that specific variation in the consulted database, not that no association exists.
Details
Original description by the author
Retrieves ClinGen gene-disease validity assertions for a public gene or disease, and reviews source-linked public evidence and literature for one supported GRCh38 germline nuclear SNV or simple indel through Folklore Clinical Variant Interpretation MCP. Used when a scientific agent must branch deterministically on resolved, ambiguous, not-found, invalid, unsupported, or unavailable variant outcome
Popularity
- GitHub stars
- 51k
- Ranking position
- #1872
- License
- MIT
- Updated
- 10/15/2026
Comments
- …
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