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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 12-26937997-G-GCACACACACACACACA (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=26937997&ref=G&alt=GCACACACACACACACA&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 26937997,
      "ref": "G",
      "alt": "GCACACACACACACACA",
      "effect": "5_prime_UTR_variant",
      "transcript": "ENST00000892608.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892608.1",
          "protein_id": "ENSP00000562667.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892608.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892611.1",
          "protein_id": "ENSP00000562670.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892611.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000946631.1",
          "protein_id": "ENSP00000616690.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946631.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892615.1",
          "protein_id": "ENSP00000562674.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892615.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892606.1",
          "protein_id": "ENSP00000562665.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 676,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2031,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892606.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892614.1",
          "protein_id": "ENSP00000562673.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892614.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892607.1",
          "protein_id": "ENSP00000562666.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1950,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892607.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892609.1",
          "protein_id": "ENSP00000562668.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892609.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892610.1",
          "protein_id": "ENSP00000562669.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 601,
          "cds_start": null,
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          "cds_length": 1806,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892610.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-180-189_-180-188insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892612.1",
          "protein_id": "ENSP00000562671.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 706,
          "cds_start": null,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 16,
          "intron_rank": 1,
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          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
          "hgvs_c": "c.-12+270_-12+271insTGTGTGTGTGTGTGTG",
          "hgvs_p": null,
          "transcript": "ENST00000892613.1",
          "protein_id": "ENSP00000562672.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "hgvs_c": "c.-98+270_-98+271insTGTGTGTGTGTGTGTG",
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          "transcript": "ENST00000946630.1",
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        {
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          "transcript": "ENST00000544548.5",
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        {
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        {
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          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "INTS13",
          "gene_hgnc_id": 20174,
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          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000892608.1",
          "gene_symbol": "INTS13",
          "hgnc_id": 20174,
          "effects": [
            "5_prime_UTR_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTG",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}