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get_protein_variants

Retrieve disease-associated variants and mutations for a protein using its UniProt accession number to analyze genetic variations.

Instructions

Disease-associated variants and mutations

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
accessionYesUniProt accession number

Implementation Reference

  • The main handler function for the 'get_protein_variants' tool. Fetches protein data from UniProt API and extracts variant information including natural variants, mutagenesis sites, disease-associated variants, and polymorphisms.
    private async handleGetProteinVariants(args: any) {
      if (!isValidProteinInfoArgs(args)) {
        throw new McpError(ErrorCode.InvalidParams, 'Invalid protein variants arguments');
      }
    
      try {
        const response = await this.apiClient.get(`/uniprotkb/${args.accession}`, {
          params: { format: 'json' },
        });
    
        const protein = response.data;
        const variantInfo = {
          accession: protein.primaryAccession,
          naturalVariants: protein.features?.filter((f: any) => f.type === 'Natural variant') || [],
          mutagenesisFeatures: protein.features?.filter((f: any) => f.type === 'Mutagenesis') || [],
          diseaseVariants: protein.features?.filter((f: any) =>
            f.type === 'Natural variant' && f.association?.disease
          ) || [],
          polymorphisms: protein.comments?.filter((c: any) => c.commentType === 'POLYMORPHISM') || [],
        };
    
        return {
          content: [
            {
              type: 'text',
              text: JSON.stringify(variantInfo, null, 2),
            },
          ],
        };
      } catch (error) {
        return {
          content: [
            {
              type: 'text',
              text: `Error fetching protein variants: ${error instanceof Error ? error.message : 'Unknown error'}`,
            },
          ],
          isError: true,
        };
      }
    }
  • src/index.ts:536-544 (registration)
    Tool registration in the ListToolsRequestSchema handler, including name, description, and input schema.
    name: 'get_protein_variants',
    description: 'Disease-associated variants and mutations',
    inputSchema: {
      type: 'object',
      properties: {
        accession: { type: 'string', description: 'UniProt accession number' },
      },
      required: ['accession'],
    },
  • src/index.ts:752-753 (registration)
    Dispatch case in the CallToolRequestSchema switch statement that routes calls to the handler.
    case 'get_protein_variants':
      return this.handleGetProteinVariants(args);
  • Input validation helper function used by get_protein_variants and other protein info tools.
    const isValidProteinInfoArgs = (
      args: any
    ): args is { accession: string; format?: string } => {
      return (
        typeof args === 'object' &&
        args !== null &&
        typeof args.accession === 'string' &&
        args.accession.length > 0 &&
        (args.format === undefined || ['json', 'tsv', 'fasta', 'xml'].includes(args.format))
      );
    };
Behavior2/5

Does the description disclose side effects, auth requirements, rate limits, or destructive behavior?

No annotations are provided, so the description carries full burden. It doesn't disclose behavioral traits such as whether this is a read-only operation, if it requires authentication, rate limits, or what the output format looks like. For a tool with no annotations, this is a significant gap in transparency about how it behaves.

Agents need to know what a tool does to the world before calling it. Descriptions should go beyond structured annotations to explain consequences.

Conciseness4/5

Is the description appropriately sized, front-loaded, and free of redundancy?

The description is a single phrase 'Disease-associated variants and mutations', which is concise and front-loaded with the core purpose. However, it's under-specified rather than efficiently informative, lacking necessary details for a tool with no annotations, which slightly reduces its effectiveness.

Shorter descriptions cost fewer tokens and are easier for agents to parse. Every sentence should earn its place.

Completeness2/5

Given the tool's complexity, does the description cover enough for an agent to succeed on first attempt?

Given the tool's complexity (retrieving disease-associated variants), lack of annotations, and no output schema, the description is incomplete. It doesn't explain return values, error handling, or behavioral context, leaving gaps that could hinder an AI agent's ability to use it correctly in a broader context.

Complex tools with many parameters or behaviors need more documentation. Simple tools need less. This dimension scales expectations accordingly.

Parameters3/5

Does the description clarify parameter syntax, constraints, interactions, or defaults beyond what the schema provides?

The input schema has 100% description coverage, with the single parameter 'accession' clearly documented as a UniProt accession number. The description adds no additional meaning beyond the schema, such as format examples or constraints. With high schema coverage, the baseline score of 3 is appropriate as the schema does the heavy lifting.

Input schemas describe structure but not intent. Descriptions should explain non-obvious parameter relationships and valid value ranges.

Purpose3/5

Does the description clearly state what the tool does and how it differs from similar tools?

The description 'Disease-associated variants and mutations' states what the tool retrieves but is vague about the action. It mentions the resource (protein variants/mutations) but lacks a specific verb like 'retrieve', 'fetch', or 'list'. It doesn't distinguish from siblings like 'get_protein_features' or 'get_protein_info', which might also relate to variants.

Agents choose between tools based on descriptions. A clear purpose with a specific verb and resource helps agents select the right tool.

Usage Guidelines2/5

Does the description explain when to use this tool, when not to, or what alternatives exist?

No guidance is provided on when to use this tool versus alternatives. It doesn't mention prerequisites, exclusions, or compare to siblings like 'search_by_function' or 'get_protein_homologs', which could also involve variant data. The description implies a specific focus on disease-associated variants but doesn't clarify context or limitations.

Agents often have multiple tools that could apply. Explicit usage guidance like "use X instead of Y when Z" prevents misuse.

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