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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: 16-11891126-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11891126&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 11891126,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_002094.4",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.712A>G",
          "hgvs_p": "p.Met238Val",
          "transcript": "NM_002094.4",
          "protein_id": "NP_002085.3",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 637,
          "cds_start": 712,
          "cds_end": null,
          "cds_length": 1914,
          "cdna_start": 948,
          "cdna_end": null,
          "cdna_length": 7141,
          "mane_select": "ENST00000434724.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002094.4"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.712A>G",
          "hgvs_p": "p.Met238Val",
          "transcript": "ENST00000434724.7",
          "protein_id": "ENSP00000398131.2",
          "transcript_support_level": 1,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 637,
          "cds_start": 712,
          "cds_end": null,
          "cds_length": 1914,
          "cdna_start": 948,
          "cdna_end": null,
          "cdna_length": 7141,
          "mane_select": "NM_002094.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000434724.7"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.709A>G",
          "hgvs_p": "p.Met237Val",
          "transcript": "ENST00000439887.6",
          "protein_id": "ENSP00000408399.2",
          "transcript_support_level": 1,
          "aa_start": 237,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": 709,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": 867,
          "cdna_end": null,
          "cdna_length": 2509,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000439887.6"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.298A>G",
          "hgvs_p": "p.Met100Val",
          "transcript": "ENST00000420576.6",
          "protein_id": "ENSP00000399539.2",
          "transcript_support_level": 1,
          "aa_start": 100,
          "aa_end": null,
          "aa_length": 499,
          "cds_start": 298,
          "cds_end": null,
          "cds_length": 1500,
          "cdna_start": 401,
          "cdna_end": null,
          "cdna_length": 1603,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000420576.6"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.712A>G",
          "hgvs_p": "p.Met238Val",
          "transcript": "ENST00000895134.1",
          "protein_id": "ENSP00000565193.1",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 712,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 909,
          "cdna_end": null,
          "cdna_length": 2703,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895134.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.709A>G",
          "hgvs_p": "p.Met237Val",
          "transcript": "NM_001130006.2",
          "protein_id": "NP_001123478.2",
          "transcript_support_level": null,
          "aa_start": 237,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": 709,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": 945,
          "cdna_end": null,
          "cdna_length": 7138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001130006.2"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.712A>G",
          "hgvs_p": "p.Met238Val",
          "transcript": "ENST00000895137.1",
          "protein_id": "ENSP00000565196.1",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 635,
          "cds_start": 712,
          "cds_end": null,
          "cds_length": 1908,
          "cdna_start": 944,
          "cdna_end": null,
          "cdna_length": 2590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895137.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.670A>G",
          "hgvs_p": "p.Met224Val",
          "transcript": "ENST00000913281.1",
          "protein_id": "ENSP00000583340.1",
          "transcript_support_level": null,
          "aa_start": 224,
          "aa_end": null,
          "aa_length": 623,
          "cds_start": 670,
          "cds_end": null,
          "cds_length": 1872,
          "cdna_start": 905,
          "cdna_end": null,
          "cdna_length": 7098,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913281.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.667A>G",
          "hgvs_p": "p.Met223Val",
          "transcript": "ENST00000895140.1",
          "protein_id": "ENSP00000565199.1",
          "transcript_support_level": null,
          "aa_start": 223,
          "aa_end": null,
          "aa_length": 622,
          "cds_start": 667,
          "cds_end": null,
          "cds_length": 1869,
          "cdna_start": 864,
          "cdna_end": null,
          "cdna_length": 2506,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895140.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.664A>G",
          "hgvs_p": "p.Met222Val",
          "transcript": "ENST00000945601.1",
          "protein_id": "ENSP00000615660.1",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": 848,
          "cdna_end": null,
          "cdna_length": 2484,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945601.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.661A>G",
          "hgvs_p": "p.Met221Val",
          "transcript": "ENST00000945600.1",
          "protein_id": "ENSP00000615659.1",
          "transcript_support_level": null,
          "aa_start": 221,
          "aa_end": null,
          "aa_length": 620,
          "cds_start": 661,
          "cds_end": null,
          "cds_length": 1863,
          "cdna_start": 714,
          "cdna_end": null,
          "cdna_length": 2824,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945600.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.712A>G",
          "hgvs_p": "p.Met238Val",
          "transcript": "ENST00000913280.1",
          "protein_id": "ENSP00000583339.1",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": 712,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": 970,
          "cdna_end": null,
          "cdna_length": 7082,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913280.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.628A>G",
          "hgvs_p": "p.Met210Val",
          "transcript": "ENST00000895138.1",
          "protein_id": "ENSP00000565197.1",
          "transcript_support_level": null,
          "aa_start": 210,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 628,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": 856,
          "cdna_end": null,
          "cdna_length": 2502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895138.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.709A>G",
          "hgvs_p": "p.Met237Val",
          "transcript": "ENST00000913283.1",
          "protein_id": "ENSP00000583342.1",
          "transcript_support_level": null,
          "aa_start": 237,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 709,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": 941,
          "cdna_end": null,
          "cdna_length": 2979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913283.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.625A>G",
          "hgvs_p": "p.Met209Val",
          "transcript": "ENST00000913284.1",
          "protein_id": "ENSP00000583343.1",
          "transcript_support_level": null,
          "aa_start": 209,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 625,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 819,
          "cdna_end": null,
          "cdna_length": 2479,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913284.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.712A>G",
          "hgvs_p": "p.Met238Val",
          "transcript": "ENST00000895139.1",
          "protein_id": "ENSP00000565198.1",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 607,
          "cds_start": 712,
          "cds_end": null,
          "cds_length": 1824,
          "cdna_start": 942,
          "cdna_end": null,
          "cdna_length": 2491,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895139.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.712A>G",
          "hgvs_p": "p.Met238Val",
          "transcript": "ENST00000895133.1",
          "protein_id": "ENSP00000565192.1",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 579,
          "cds_start": 712,
          "cds_end": null,
          "cds_length": 1740,
          "cdna_start": 948,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895133.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.484A>G",
          "hgvs_p": "p.Met162Val",
          "transcript": "ENST00000895136.1",
          "protein_id": "ENSP00000565195.1",
          "transcript_support_level": null,
          "aa_start": 162,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 484,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": 740,
          "cdna_end": null,
          "cdna_length": 2382,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895136.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.400A>G",
          "hgvs_p": "p.Met134Val",
          "transcript": "ENST00000895135.1",
          "protein_id": "ENSP00000565194.1",
          "transcript_support_level": null,
          "aa_start": 134,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": 400,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": 659,
          "cdna_end": null,
          "cdna_length": 2317,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895135.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSPT1",
          "gene_hgnc_id": 4621,
          "hgvs_c": "c.298A>G",
          "hgvs_p": "p.Met100Val",
          "transcript": "NM_001130007.2",
          "protein_id": "NP_001123479.1",
          "transcript_support_level": null,
          "aa_start": 100,
          "aa_end": null,
          "aa_length": 499,
          "cds_start": 298,
          "cds_end": null,
          "cds_length": 1500,
          "cdna_start": 973,
          "cdna_end": null,
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            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000574364.2",
          "gene_symbol": "RSL1D1-DT",
          "hgnc_id": 55337,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.467-4363T>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
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