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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: 7-140753361-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140753361&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 140753361,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000646891.2",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1894A>G",
          "hgvs_p": "p.Ile632Val",
          "transcript": "NM_001374258.1",
          "protein_id": "NP_001361187.1",
          "transcript_support_level": null,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": 1894,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": 2120,
          "cdna_end": null,
          "cdna_length": 9807,
          "mane_select": null,
          "mane_plus": "ENST00000644969.2",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1894A>G",
          "hgvs_p": "p.Ile632Val",
          "transcript": "ENST00000644969.2",
          "protein_id": "ENSP00000496776.1",
          "transcript_support_level": null,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": 1894,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": 2120,
          "cdna_end": null,
          "cdna_length": 9807,
          "mane_select": null,
          "mane_plus": "NM_001374258.1",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1774A>G",
          "hgvs_p": "p.Ile592Val",
          "transcript": "NM_004333.6",
          "protein_id": "NP_004324.2",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1774,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2000,
          "cdna_end": null,
          "cdna_length": 6459,
          "mane_select": "ENST00000646891.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1774A>G",
          "hgvs_p": "p.Ile592Val",
          "transcript": "ENST00000646891.2",
          "protein_id": "ENSP00000493543.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1774,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2000,
          "cdna_end": null,
          "cdna_length": 6459,
          "mane_select": "NM_004333.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1894A>G",
          "hgvs_p": "p.Ile632Val",
          "transcript": "ENST00000288602.11",
          "protein_id": "ENSP00000288602.7",
          "transcript_support_level": 1,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": 1894,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": 1923,
          "cdna_end": null,
          "cdna_length": 2561,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1894A>G",
          "hgvs_p": "p.Ile632Val",
          "transcript": "NM_001374244.1",
          "protein_id": "NP_001361173.1",
          "transcript_support_level": null,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": 1894,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": 2120,
          "cdna_end": null,
          "cdna_length": 6579,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1783A>G",
          "hgvs_p": "p.Ile595Val",
          "transcript": "NM_001378467.1",
          "protein_id": "NP_001365396.1",
          "transcript_support_level": null,
          "aa_start": 595,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 1783,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": 2009,
          "cdna_end": null,
          "cdna_length": 9696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1774A>G",
          "hgvs_p": "p.Ile592Val",
          "transcript": "NM_001354609.2",
          "protein_id": "NP_001341538.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 1774,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": 2000,
          "cdna_end": null,
          "cdna_length": 9687,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1774A>G",
          "hgvs_p": "p.Ile592Val",
          "transcript": "ENST00000496384.7",
          "protein_id": "ENSP00000419060.2",
          "transcript_support_level": 5,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 1774,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": 1881,
          "cdna_end": null,
          "cdna_length": 9578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1774A>G",
          "hgvs_p": "p.Ile592Val",
          "transcript": "NM_001378468.1",
          "protein_id": "NP_001365397.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": 1774,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": 2000,
          "cdna_end": null,
          "cdna_length": 9533,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1708A>G",
          "hgvs_p": "p.Ile570Val",
          "transcript": "NM_001378469.1",
          "protein_id": "NP_001365398.1",
          "transcript_support_level": null,
          "aa_start": 570,
          "aa_end": null,
          "aa_length": 744,
          "cds_start": 1708,
          "cds_end": null,
          "cds_length": 2235,
          "cdna_start": 1934,
          "cdna_end": null,
          "cdna_length": 6393,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1672A>G",
          "hgvs_p": "p.Ile558Val",
          "transcript": "NM_001378470.1",
          "protein_id": "NP_001365399.1",
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          "cds_start": 1672,
          "cds_end": null,
          "cds_length": 2202,
          "cdna_start": 1898,
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          "cdna_length": 9585,
          "mane_select": null,
          "mane_plus": null,
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        },
        {
          "aa_ref": "I",
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 14,
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          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1663A>G",
          "hgvs_p": "p.Ile555Val",
          "transcript": "NM_001378471.1",
          "protein_id": "NP_001365400.1",
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          "aa_start": 555,
          "aa_end": null,
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          "cds_start": 1663,
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          "cdna_start": 1889,
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1618A>G",
          "hgvs_p": "p.Ile540Val",
          "transcript": "NM_001378472.1",
          "protein_id": "NP_001365401.1",
          "transcript_support_level": null,
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          "cds_start": 1618,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1618A>G",
          "hgvs_p": "p.Ile540Val",
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
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          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1774A>G",
          "hgvs_p": "p.Ile592Val",
          "transcript": "NM_001378474.1",
          "protein_id": "NP_001365403.1",
          "transcript_support_level": null,
          "aa_start": 592,
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          "cds_end": null,
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          "cdna_start": 2000,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1510A>G",
          "hgvs_p": "p.Ile504Val",
          "transcript": "NM_001378475.1",
          "protein_id": "NP_001365404.1",
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          "aa_start": 504,
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          "cds_start": 1510,
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          "cds_length": 2040,
          "cdna_start": 1736,
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          "feature": null
        },
        {
          "aa_ref": "I",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1894A>G",
          "hgvs_p": "p.Ile632Val",
          "transcript": "XM_017012559.2",
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        },
        {
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          "protein_coding": true,
          "strand": false,
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          ],
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          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1738A>G",
          "hgvs_p": "p.Ile580Val",
          "transcript": "XM_047420766.1",
          "protein_id": "XP_047276722.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1894A>G",
          "hgvs_p": "p.Ile632Val",
          "transcript": "XM_047420767.1",
          "protein_id": "XP_047276723.1",
          "transcript_support_level": null,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": 1894,
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          "cds_length": 2145,
          "cdna_start": 2120,
          "cdna_end": null,
          "cdna_length": 2555,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
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}