Variant API

The Variant API module (src/api/variantApi.js) provides variant analysis using the variant-linker library with Ensembl integration.

Functions

queryVariant(variantInput, options)

Analyzes genetic variants with comprehensive annotations.

Parameters:

• variantInput (string|string[], required) - Single variant or array (max 200)
• options (Object, optional)
  • recoderOptions (Object) - Variant Recoder options
    • Default: { vcf_string: '1' }
  • vepOptions (Object) - VEP annotation options
    • Default: { CADD: '1', hgvs: '1', merged: '1', mane: '1' }
  • skipCache (boolean) - Bypass cache
  • cacheTTL (number) - Cache TTL in ms (default: 30 min)
  • output (string) - Format: 'JSON', 'CSV', 'TSV', 'VCF'
  • filter (string) - Filtering criteria
  • assembly (string) - 'GRCh37' or 'GRCh38' (default)
  • onRetry (Function) - Retry callback
  • onSuccess (Function) - Success callback
  • apiCache (Object) - API cache instance

Returns: Promise<Object|string>

• JSON format: Object with data and source
• Other formats: String representation

Usage:

import { queryVariant } from '@/api/variantApi';
import { useApiCache } from '@/composables/useApiCache';

const apiCache = useApiCache();

// Single variant
const result = await queryVariant('NM_001009944.3:c.11798G>A', {
  apiCache,
  assembly: 'GRCh38',
  output: 'JSON'
});

// Batch processing
const variants = [
  'chr16:2138253:G:A',
  'rs121913240'
];
const results = await queryVariant(variants, {
  output: 'CSV',
  skipCache: true  // Cache disabled for batch
});

Supported Formats

Input Formats

• HGVS: NM_001009944.3:c.11798G>A
• VCF: chr16:2138253:G:A
• rsID: rs121913240

Output Formats

• JSON: Structured data with annotations
• CSV/TSV: Spreadsheet-compatible
• VCF: Standard variant call format

Error Handling

Non-retryable Errors

• 400: Bad Request
• 401: Unauthorized
• 403: Forbidden
• 404: Not Found
• 422: Unprocessable Entity

Retryable Errors

• 429: Too Many Requests
• 500+: Server errors

Limitations

• Maximum 200 variants per batch
• Cache disabled for batch requests
• Assembly-specific Ensembl endpoints