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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: 11-47166368-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47166368&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 47166368,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001410995.1",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1445A>T",
          "hgvs_p": "p.Asn482Ile",
          "transcript": "NM_032389.6",
          "protein_id": "NP_115765.2",
          "transcript_support_level": null,
          "aa_start": 482,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1445,
          "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": "N",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1445A>T",
          "hgvs_p": "p.Asn482Ile",
          "transcript": "ENST00000524782.6",
          "protein_id": "ENSP00000434442.1",
          "transcript_support_level": 1,
          "aa_start": 482,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1445,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1562A>T",
          "hgvs_p": "p.Asn521Ile",
          "transcript": "ENST00000892878.1",
          "protein_id": "ENSP00000562937.1",
          "transcript_support_level": null,
          "aa_start": 521,
          "aa_end": null,
          "aa_length": 560,
          "cds_start": 1562,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1532A>T",
          "hgvs_p": "p.Asn511Ile",
          "transcript": "ENST00000946556.1",
          "protein_id": "ENSP00000616615.1",
          "transcript_support_level": null,
          "aa_start": 511,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 1532,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1529A>T",
          "hgvs_p": "p.Asn510Ile",
          "transcript": "ENST00000892879.1",
          "protein_id": "ENSP00000562938.1",
          "transcript_support_level": null,
          "aa_start": 510,
          "aa_end": null,
          "aa_length": 549,
          "cds_start": 1529,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1490A>T",
          "hgvs_p": "p.Asn497Ile",
          "transcript": "ENST00000892889.1",
          "protein_id": "ENSP00000562948.1",
          "transcript_support_level": null,
          "aa_start": 497,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 1490,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1487A>T",
          "hgvs_p": "p.Asn496Ile",
          "transcript": "NM_001410995.1",
          "protein_id": "NP_001397924.1",
          "transcript_support_level": null,
          "aa_start": 496,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1487,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1487A>T",
          "hgvs_p": "p.Asn496Ile",
          "transcript": "ENST00000525314.6",
          "protein_id": "ENSP00000434809.2",
          "transcript_support_level": 3,
          "aa_start": 496,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1487,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1439A>T",
          "hgvs_p": "p.Asn480Ile",
          "transcript": "ENST00000924865.1",
          "protein_id": "ENSP00000594924.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1439,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1433A>T",
          "hgvs_p": "p.Asn478Ile",
          "transcript": "ENST00000892884.1",
          "protein_id": "ENSP00000562943.1",
          "transcript_support_level": null,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 1433,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1430A>T",
          "hgvs_p": "p.Asn477Ile",
          "transcript": "ENST00000892885.1",
          "protein_id": "ENSP00000562944.1",
          "transcript_support_level": null,
          "aa_start": 477,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1430,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1430A>T",
          "hgvs_p": "p.Asn477Ile",
          "transcript": "ENST00000946554.1",
          "protein_id": "ENSP00000616613.1",
          "transcript_support_level": null,
          "aa_start": 477,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1430,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1418A>T",
          "hgvs_p": "p.Asn473Ile",
          "transcript": "ENST00000924867.1",
          "protein_id": "ENSP00000594926.1",
          "transcript_support_level": null,
          "aa_start": 473,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 1418,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1403A>T",
          "hgvs_p": "p.Asn468Ile",
          "transcript": "ENST00000892881.1",
          "protein_id": "ENSP00000562940.1",
          "transcript_support_level": null,
          "aa_start": 468,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1403,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000892881.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1403A>T",
          "hgvs_p": "p.Asn468Ile",
          "transcript": "ENST00000892883.1",
          "protein_id": "ENSP00000562942.1",
          "transcript_support_level": null,
          "aa_start": 468,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1403,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892883.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1388A>T",
          "hgvs_p": "p.Asn463Ile",
          "transcript": "ENST00000892882.1",
          "protein_id": "ENSP00000562941.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1388,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892882.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1361A>T",
          "hgvs_p": "p.Asn454Ile",
          "transcript": "NM_001242832.2",
          "protein_id": "NP_001229761.1",
          "transcript_support_level": null,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1361,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001242832.2"
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1361A>T",
          "hgvs_p": "p.Asn454Ile",
          "transcript": "ENST00000426335.6",
          "protein_id": "ENSP00000400226.3",
          "transcript_support_level": 2,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1361,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426335.6"
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1358A>T",
          "hgvs_p": "p.Asn453Ile",
          "transcript": "ENST00000946550.1",
          "protein_id": "ENSP00000616609.1",
          "transcript_support_level": null,
          "aa_start": 453,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 1358,
          "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": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1340A>T",
          "hgvs_p": "p.Asn447Ile",
          "transcript": "ENST00000946552.1",
          "protein_id": "ENSP00000616611.1",
          "transcript_support_level": null,
          "aa_start": 447,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1340,
          "cds_end": null,
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      "computational_score_selected": 0.6775370240211487,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.267,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.5389,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.27,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.106,
      "phylop100way_prediction": "Benign",
      "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": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001410995.1",
          "gene_symbol": "ARFGAP2",
          "hgnc_id": 13504,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1487A>T",
          "hgvs_p": "p.Asn496Ile"
        }
      ],
      "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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