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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: 7-140734622-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140734622&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 140734622,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001374258.1",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2396G>T",
          "hgvs_p": "p.Gly799Val",
          "transcript": "NM_001374258.1",
          "protein_id": "NP_001361187.1",
          "transcript_support_level": null,
          "aa_start": 799,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": 2396,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "ENST00000644969.2",
          "biotype": "protein_coding",
          "feature": "NM_001374258.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2396G>T",
          "hgvs_p": "p.Gly799Val",
          "transcript": "ENST00000644969.2",
          "protein_id": "ENSP00000496776.1",
          "transcript_support_level": null,
          "aa_start": 799,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": 2396,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "NM_001374258.1",
          "biotype": "protein_coding",
          "feature": "ENST00000644969.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2276G>T",
          "hgvs_p": "p.Gly759Val",
          "transcript": "NM_004333.6",
          "protein_id": "NP_004324.2",
          "transcript_support_level": null,
          "aa_start": 759,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 2276,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000646891.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004333.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2276G>T",
          "hgvs_p": "p.Gly759Val",
          "transcript": "ENST00000646891.2",
          "protein_id": "ENSP00000493543.1",
          "transcript_support_level": null,
          "aa_start": 759,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 2276,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004333.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000646891.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2396G>T",
          "hgvs_p": "p.Gly799Val",
          "transcript": "ENST00000288602.11",
          "protein_id": "ENSP00000288602.7",
          "transcript_support_level": 1,
          "aa_start": 799,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": 2396,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000288602.11"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2405G>T",
          "hgvs_p": "p.Gly802Val",
          "transcript": "ENST00000944245.1",
          "protein_id": "ENSP00000614304.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 809,
          "cds_start": 2405,
          "cds_end": null,
          "cds_length": 2430,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944245.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2396G>T",
          "hgvs_p": "p.Gly799Val",
          "transcript": "NM_001374244.1",
          "protein_id": "NP_001361173.1",
          "transcript_support_level": null,
          "aa_start": 799,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": 2396,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374244.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2285G>T",
          "hgvs_p": "p.Gly762Val",
          "transcript": "NM_001378467.1",
          "protein_id": "NP_001365396.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 2285,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378467.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2285G>T",
          "hgvs_p": "p.Gly762Val",
          "transcript": "ENST00000912600.1",
          "protein_id": "ENSP00000582659.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 769,
          "cds_start": 2285,
          "cds_end": null,
          "cds_length": 2310,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912600.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2276G>T",
          "hgvs_p": "p.Gly759Val",
          "transcript": "NM_001354609.2",
          "protein_id": "NP_001341538.1",
          "transcript_support_level": null,
          "aa_start": 759,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 2276,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354609.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2276G>T",
          "hgvs_p": "p.Gly759Val",
          "transcript": "ENST00000496384.7",
          "protein_id": "ENSP00000419060.2",
          "transcript_support_level": 5,
          "aa_start": 759,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 2276,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000496384.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2210G>T",
          "hgvs_p": "p.Gly737Val",
          "transcript": "NM_001378469.1",
          "protein_id": "NP_001365398.1",
          "transcript_support_level": null,
          "aa_start": 737,
          "aa_end": null,
          "aa_length": 744,
          "cds_start": 2210,
          "cds_end": null,
          "cds_length": 2235,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378469.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2210G>T",
          "hgvs_p": "p.Gly737Val",
          "transcript": "ENST00000912601.1",
          "protein_id": "ENSP00000582660.1",
          "transcript_support_level": null,
          "aa_start": 737,
          "aa_end": null,
          "aa_length": 744,
          "cds_start": 2210,
          "cds_end": null,
          "cds_length": 2235,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912601.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2174G>T",
          "hgvs_p": "p.Gly725Val",
          "transcript": "NM_001378470.1",
          "protein_id": "NP_001365399.1",
          "transcript_support_level": null,
          "aa_start": 725,
          "aa_end": null,
          "aa_length": 733,
          "cds_start": 2174,
          "cds_end": null,
          "cds_length": 2202,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378470.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2174G>T",
          "hgvs_p": "p.Gly725Val",
          "transcript": "ENST00000867091.1",
          "protein_id": "ENSP00000537150.1",
          "transcript_support_level": null,
          "aa_start": 725,
          "aa_end": null,
          "aa_length": 732,
          "cds_start": 2174,
          "cds_end": null,
          "cds_length": 2199,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867091.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2165G>T",
          "hgvs_p": "p.Gly722Val",
          "transcript": "NM_001378471.1",
          "protein_id": "NP_001365400.1",
          "transcript_support_level": null,
          "aa_start": 722,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": 2165,
          "cds_end": null,
          "cds_length": 2193,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378471.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2120G>T",
          "hgvs_p": "p.Gly707Val",
          "transcript": "NM_001378472.1",
          "protein_id": "NP_001365401.1",
          "transcript_support_level": null,
          "aa_start": 707,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": 2120,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378472.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2120G>T",
          "hgvs_p": "p.Gly707Val",
          "transcript": "NM_001378473.1",
          "protein_id": "NP_001365402.1",
          "transcript_support_level": null,
          "aa_start": 707,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": 2120,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378473.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2012G>T",
          "hgvs_p": "p.Gly671Val",
          "transcript": "NM_001378475.1",
          "protein_id": "NP_001365404.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": 2012,
          "cds_end": null,
          "cds_length": 2040,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378475.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.920G>T",
          "hgvs_p": "p.Gly307Val",
          "transcript": "ENST00000867092.1",
          "protein_id": "ENSP00000537151.1",
          "transcript_support_level": null,
          "aa_start": 307,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": 920,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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          "feature": "ENST00000647434.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "n.2517+5190G>T",
          "hgvs_p": null,
          "transcript": "ENST00000644120.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000644120.1"
        }
      ],
      "gene_symbol": "BRAF",
      "gene_hgnc_id": 1097,
      "dbsnp": "rs1585930903",
      "frequency_reference_population": 6.8405444e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84054e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6189327836036682,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.438,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1675,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.03,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 7.905,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 5,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PM5,PP2",
      "acmg_by_gene": [
        {
          "score": 5,
          "benign_score": 0,
          "pathogenic_score": 5,
          "criteria": [
            "PM2",
            "PM5",
            "PP2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001374258.1",
          "gene_symbol": "BRAF",
          "hgnc_id": 1097,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2396G>T",
          "hgvs_p": "p.Gly799Val"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}