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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: X-47567066-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47567066&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 47567066,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001256196.2",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "NM_001654.5",
          "protein_id": "NP_001645.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000377045.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001654.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000377045.9",
          "protein_id": "ENSP00000366244.4",
          "transcript_support_level": 1,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001654.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377045.9"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000895646.1",
          "protein_id": "ENSP00000565705.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895646.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.841C>T",
          "hgvs_p": "p.Pro281Ser",
          "transcript": "ENST00000895654.1",
          "protein_id": "ENSP00000565713.1",
          "transcript_support_level": null,
          "aa_start": 281,
          "aa_end": null,
          "aa_length": 617,
          "cds_start": 841,
          "cds_end": null,
          "cds_length": 1854,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895654.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000895644.1",
          "protein_id": "ENSP00000565703.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895644.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.838C>T",
          "hgvs_p": "p.Pro280Ser",
          "transcript": "ENST00000895655.1",
          "protein_id": "ENSP00000565714.1",
          "transcript_support_level": null,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": 838,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895655.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.826C>T",
          "hgvs_p": "p.Pro276Ser",
          "transcript": "ENST00000895648.1",
          "protein_id": "ENSP00000565707.1",
          "transcript_support_level": null,
          "aa_start": 276,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 826,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895648.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.823C>T",
          "hgvs_p": "p.Pro275Ser",
          "transcript": "ENST00000895640.1",
          "protein_id": "ENSP00000565699.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 611,
          "cds_start": 823,
          "cds_end": null,
          "cds_length": 1836,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895640.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.823C>T",
          "hgvs_p": "p.Pro275Ser",
          "transcript": "ENST00000895653.1",
          "protein_id": "ENSP00000565712.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 611,
          "cds_start": 823,
          "cds_end": null,
          "cds_length": 1836,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895653.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.823C>T",
          "hgvs_p": "p.Pro275Ser",
          "transcript": "ENST00000914657.1",
          "protein_id": "ENSP00000584716.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 611,
          "cds_start": 823,
          "cds_end": null,
          "cds_length": 1836,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914657.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.823C>T",
          "hgvs_p": "p.Pro275Ser",
          "transcript": "ENST00000914659.1",
          "protein_id": "ENSP00000584718.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 611,
          "cds_start": 823,
          "cds_end": null,
          "cds_length": 1836,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914659.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.817C>T",
          "hgvs_p": "p.Pro273Ser",
          "transcript": "NM_001256196.2",
          "protein_id": "NP_001243125.1",
          "transcript_support_level": null,
          "aa_start": 273,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 817,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001256196.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.817C>T",
          "hgvs_p": "p.Pro273Ser",
          "transcript": "ENST00000895639.1",
          "protein_id": "ENSP00000565698.1",
          "transcript_support_level": null,
          "aa_start": 273,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 817,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895639.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000895638.1",
          "protein_id": "ENSP00000565697.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895638.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000895642.1",
          "protein_id": "ENSP00000565701.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895642.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000895650.1",
          "protein_id": "ENSP00000565709.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895650.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000895651.1",
          "protein_id": "ENSP00000565710.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895651.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000895656.1",
          "protein_id": "ENSP00000565715.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895656.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000914658.1",
          "protein_id": "ENSP00000584717.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 808,
          "cds_end": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914658.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAF",
          "gene_hgnc_id": 646,
          "hgvs_c": "c.808C>T",
          "hgvs_p": "p.Pro270Ser",
          "transcript": "ENST00000895641.1",
          "protein_id": "ENSP00000565700.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 808,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895641.1"
        },
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      "clinvar_disease": "",
      "clinvar_classification": "",
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      "custom_annotations": null
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  "message": null
}