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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: 11-47165490-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47165490&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 47165490,
      "ref": "A",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001410995.1",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1558T>A",
          "hgvs_p": "p.Ser520Thr",
          "transcript": "NM_032389.6",
          "protein_id": "NP_115765.2",
          "transcript_support_level": null,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1558,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000524782.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032389.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1558T>A",
          "hgvs_p": "p.Ser520Thr",
          "transcript": "ENST00000524782.6",
          "protein_id": "ENSP00000434442.1",
          "transcript_support_level": 1,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1558,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_032389.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000524782.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "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": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1675T>A",
          "hgvs_p": "p.Ser559Thr",
          "transcript": "ENST00000892878.1",
          "protein_id": "ENSP00000562937.1",
          "transcript_support_level": null,
          "aa_start": 559,
          "aa_end": null,
          "aa_length": 560,
          "cds_start": 1675,
          "cds_end": null,
          "cds_length": 1683,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892878.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "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": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1645T>A",
          "hgvs_p": "p.Ser549Thr",
          "transcript": "ENST00000946556.1",
          "protein_id": "ENSP00000616615.1",
          "transcript_support_level": null,
          "aa_start": 549,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 1645,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946556.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "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": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1642T>A",
          "hgvs_p": "p.Ser548Thr",
          "transcript": "ENST00000892879.1",
          "protein_id": "ENSP00000562938.1",
          "transcript_support_level": null,
          "aa_start": 548,
          "aa_end": null,
          "aa_length": 549,
          "cds_start": 1642,
          "cds_end": null,
          "cds_length": 1650,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892879.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1603T>A",
          "hgvs_p": "p.Ser535Thr",
          "transcript": "ENST00000892889.1",
          "protein_id": "ENSP00000562948.1",
          "transcript_support_level": null,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 1603,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892889.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "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": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1600T>A",
          "hgvs_p": "p.Ser534Thr",
          "transcript": "NM_001410995.1",
          "protein_id": "NP_001397924.1",
          "transcript_support_level": null,
          "aa_start": 534,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1600,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001410995.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "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": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1600T>A",
          "hgvs_p": "p.Ser534Thr",
          "transcript": "ENST00000525314.6",
          "protein_id": "ENSP00000434809.2",
          "transcript_support_level": 3,
          "aa_start": 534,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1600,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000525314.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1552T>A",
          "hgvs_p": "p.Ser518Thr",
          "transcript": "ENST00000924865.1",
          "protein_id": "ENSP00000594924.1",
          "transcript_support_level": null,
          "aa_start": 518,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1552,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924865.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1546T>A",
          "hgvs_p": "p.Ser516Thr",
          "transcript": "ENST00000892884.1",
          "protein_id": "ENSP00000562943.1",
          "transcript_support_level": null,
          "aa_start": 516,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 1546,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892884.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1543T>A",
          "hgvs_p": "p.Ser515Thr",
          "transcript": "ENST00000892885.1",
          "protein_id": "ENSP00000562944.1",
          "transcript_support_level": null,
          "aa_start": 515,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1543,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892885.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1543T>A",
          "hgvs_p": "p.Ser515Thr",
          "transcript": "ENST00000946554.1",
          "protein_id": "ENSP00000616613.1",
          "transcript_support_level": null,
          "aa_start": 515,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1543,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946554.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1531T>A",
          "hgvs_p": "p.Ser511Thr",
          "transcript": "ENST00000924867.1",
          "protein_id": "ENSP00000594926.1",
          "transcript_support_level": null,
          "aa_start": 511,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 1531,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924867.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1516T>A",
          "hgvs_p": "p.Ser506Thr",
          "transcript": "ENST00000892881.1",
          "protein_id": "ENSP00000562940.1",
          "transcript_support_level": null,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1516,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892881.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1516T>A",
          "hgvs_p": "p.Ser506Thr",
          "transcript": "ENST00000892883.1",
          "protein_id": "ENSP00000562942.1",
          "transcript_support_level": null,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1516,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892883.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1501T>A",
          "hgvs_p": "p.Ser501Thr",
          "transcript": "ENST00000892882.1",
          "protein_id": "ENSP00000562941.1",
          "transcript_support_level": null,
          "aa_start": 501,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1501,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892882.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1474T>A",
          "hgvs_p": "p.Ser492Thr",
          "transcript": "NM_001242832.2",
          "protein_id": "NP_001229761.1",
          "transcript_support_level": null,
          "aa_start": 492,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1474,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001242832.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1474T>A",
          "hgvs_p": "p.Ser492Thr",
          "transcript": "ENST00000426335.6",
          "protein_id": "ENSP00000400226.3",
          "transcript_support_level": 2,
          "aa_start": 492,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1474,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426335.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1471T>A",
          "hgvs_p": "p.Ser491Thr",
          "transcript": "ENST00000946550.1",
          "protein_id": "ENSP00000616609.1",
          "transcript_support_level": null,
          "aa_start": 491,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 1471,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946550.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1453T>A",
          "hgvs_p": "p.Ser485Thr",
          "transcript": "ENST00000946552.1",
          "protein_id": "ENSP00000616611.1",
          "transcript_support_level": null,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1453,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
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      "clinvar_classification": "Uncertain significance",
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      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  "message": null
}