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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: 11-47166876-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47166876&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 47166876,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001410995.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1216C>G",
          "hgvs_p": "p.Arg406Gly",
          "transcript": "NM_032389.6",
          "protein_id": "NP_115765.2",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1216,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": 1242,
          "cdna_end": null,
          "cdna_length": 2773,
          "mane_select": "ENST00000524782.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032389.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1216C>G",
          "hgvs_p": "p.Arg406Gly",
          "transcript": "ENST00000524782.6",
          "protein_id": "ENSP00000434442.1",
          "transcript_support_level": 1,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1216,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": 1242,
          "cdna_end": null,
          "cdna_length": 2773,
          "mane_select": "NM_032389.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000524782.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1333C>G",
          "hgvs_p": "p.Arg445Gly",
          "transcript": "ENST00000892878.1",
          "protein_id": "ENSP00000562937.1",
          "transcript_support_level": null,
          "aa_start": 445,
          "aa_end": null,
          "aa_length": 560,
          "cds_start": 1333,
          "cds_end": null,
          "cds_length": 1683,
          "cdna_start": 1954,
          "cdna_end": null,
          "cdna_length": 3485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892878.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1303C>G",
          "hgvs_p": "p.Arg435Gly",
          "transcript": "ENST00000946556.1",
          "protein_id": "ENSP00000616615.1",
          "transcript_support_level": null,
          "aa_start": 435,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 1303,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": 1308,
          "cdna_end": null,
          "cdna_length": 2837,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946556.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1300C>G",
          "hgvs_p": "p.Arg434Gly",
          "transcript": "ENST00000892879.1",
          "protein_id": "ENSP00000562938.1",
          "transcript_support_level": null,
          "aa_start": 434,
          "aa_end": null,
          "aa_length": 549,
          "cds_start": 1300,
          "cds_end": null,
          "cds_length": 1650,
          "cdna_start": 1911,
          "cdna_end": null,
          "cdna_length": 3442,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892879.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1261C>G",
          "hgvs_p": "p.Arg421Gly",
          "transcript": "ENST00000892889.1",
          "protein_id": "ENSP00000562948.1",
          "transcript_support_level": null,
          "aa_start": 421,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 1261,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": 1285,
          "cdna_end": null,
          "cdna_length": 2813,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892889.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1258C>G",
          "hgvs_p": "p.Arg420Gly",
          "transcript": "NM_001410995.1",
          "protein_id": "NP_001397924.1",
          "transcript_support_level": null,
          "aa_start": 420,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1258,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": 1284,
          "cdna_end": null,
          "cdna_length": 2815,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001410995.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1258C>G",
          "hgvs_p": "p.Arg420Gly",
          "transcript": "ENST00000525314.6",
          "protein_id": "ENSP00000434809.2",
          "transcript_support_level": 3,
          "aa_start": 420,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1258,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": 1287,
          "cdna_end": null,
          "cdna_length": 2747,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000525314.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1216C>G",
          "hgvs_p": "p.Arg406Gly",
          "transcript": "ENST00000924865.1",
          "protein_id": "ENSP00000594924.1",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1216,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": 1242,
          "cdna_end": null,
          "cdna_length": 2767,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924865.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1204C>G",
          "hgvs_p": "p.Arg402Gly",
          "transcript": "ENST00000892884.1",
          "protein_id": "ENSP00000562943.1",
          "transcript_support_level": null,
          "aa_start": 402,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 1204,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": 1230,
          "cdna_end": null,
          "cdna_length": 2761,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892884.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1201C>G",
          "hgvs_p": "p.Arg401Gly",
          "transcript": "ENST00000892885.1",
          "protein_id": "ENSP00000562944.1",
          "transcript_support_level": null,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1201,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": 1227,
          "cdna_end": null,
          "cdna_length": 2758,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892885.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1201C>G",
          "hgvs_p": "p.Arg401Gly",
          "transcript": "ENST00000946554.1",
          "protein_id": "ENSP00000616613.1",
          "transcript_support_level": null,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1201,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": 1227,
          "cdna_end": null,
          "cdna_length": 2740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946554.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1216C>G",
          "hgvs_p": "p.Arg406Gly",
          "transcript": "ENST00000924867.1",
          "protein_id": "ENSP00000594926.1",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 1216,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": 1230,
          "cdna_end": null,
          "cdna_length": 2729,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924867.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1174C>G",
          "hgvs_p": "p.Arg392Gly",
          "transcript": "ENST00000892881.1",
          "protein_id": "ENSP00000562940.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1174,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": 1204,
          "cdna_end": null,
          "cdna_length": 2735,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000892881.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1174C>G",
          "hgvs_p": "p.Arg392Gly",
          "transcript": "ENST00000892883.1",
          "protein_id": "ENSP00000562942.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1174,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": 1200,
          "cdna_end": null,
          "cdna_length": 2731,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892883.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1159C>G",
          "hgvs_p": "p.Arg387Gly",
          "transcript": "ENST00000892882.1",
          "protein_id": "ENSP00000562941.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": 1185,
          "cdna_end": null,
          "cdna_length": 2716,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892882.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1132C>G",
          "hgvs_p": "p.Arg378Gly",
          "transcript": "NM_001242832.2",
          "protein_id": "NP_001229761.1",
          "transcript_support_level": null,
          "aa_start": 378,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1132,
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          "cdna_start": 1158,
          "cdna_end": null,
          "cdna_length": 2689,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001242832.2"
        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1132C>G",
          "hgvs_p": "p.Arg378Gly",
          "transcript": "ENST00000426335.6",
          "protein_id": "ENSP00000400226.3",
          "transcript_support_level": 2,
          "aa_start": 378,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1132,
          "cds_end": null,
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          "cdna_start": 1404,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1129C>G",
          "hgvs_p": "p.Arg377Gly",
          "transcript": "ENST00000946550.1",
          "protein_id": "ENSP00000616609.1",
          "transcript_support_level": null,
          "aa_start": 377,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 1129,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": 1152,
          "cdna_end": null,
          "cdna_length": 2681,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946550.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP2",
          "gene_hgnc_id": 13504,
          "hgvs_c": "c.1111C>G",
          "hgvs_p": "p.Arg371Gly",
          "transcript": "ENST00000946552.1",
          "protein_id": "ENSP00000616611.1",
          "transcript_support_level": null,
          "aa_start": 371,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1111,
          "cds_end": null,
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      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.03999999910593033,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.203,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.2967,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.19,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.942,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.04,
      "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": "Likely_benign",
      "acmg_criteria": "BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 2,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001410995.1",
          "gene_symbol": "ARFGAP2",
          "hgnc_id": 13504,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1258C>G",
          "hgvs_p": "p.Arg420Gly"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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