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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: 16-7653852-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=7653852&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 7653852,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000550418.6",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.795C>T",
          "hgvs_p": "p.Ala265Ala",
          "transcript": "NM_018723.4",
          "protein_id": "NP_061193.2",
          "transcript_support_level": null,
          "aa_start": 265,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 795,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": 1890,
          "cdna_end": null,
          "cdna_length": 4884,
          "mane_select": "ENST00000550418.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.795C>T",
          "hgvs_p": "p.Ala265Ala",
          "transcript": "ENST00000550418.6",
          "protein_id": "ENSP00000450031.1",
          "transcript_support_level": 1,
          "aa_start": 265,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 795,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": 1890,
          "cdna_end": null,
          "cdna_length": 4884,
          "mane_select": "NM_018723.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.855C>T",
          "hgvs_p": "p.Ala285Ala",
          "transcript": "NM_145893.3",
          "protein_id": "NP_665900.1",
          "transcript_support_level": null,
          "aa_start": 285,
          "aa_end": null,
          "aa_length": 395,
          "cds_start": 855,
          "cds_end": null,
          "cds_length": 1188,
          "cdna_start": 1012,
          "cdna_end": null,
          "cdna_length": 4062,
          "mane_select": null,
          "mane_plus": "ENST00000355637.9",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.855C>T",
          "hgvs_p": "p.Ala285Ala",
          "transcript": "ENST00000355637.9",
          "protein_id": "ENSP00000347855.4",
          "transcript_support_level": 1,
          "aa_start": 285,
          "aa_end": null,
          "aa_length": 395,
          "cds_start": 855,
          "cds_end": null,
          "cds_length": 1188,
          "cdna_start": 1012,
          "cdna_end": null,
          "cdna_length": 4062,
          "mane_select": null,
          "mane_plus": "NM_145893.3",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.855C>T",
          "hgvs_p": "p.Ala285Ala",
          "transcript": "ENST00000311745.9",
          "protein_id": "ENSP00000309117.5",
          "transcript_support_level": 1,
          "aa_start": 285,
          "aa_end": null,
          "aa_length": 418,
          "cds_start": 855,
          "cds_end": null,
          "cds_length": 1257,
          "cdna_start": 1107,
          "cdna_end": null,
          "cdna_length": 3268,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.855C>T",
          "hgvs_p": "p.Ala285Ala",
          "transcript": "ENST00000436368.6",
          "protein_id": "ENSP00000402745.2",
          "transcript_support_level": 1,
          "aa_start": 285,
          "aa_end": null,
          "aa_length": 392,
          "cds_start": 855,
          "cds_end": null,
          "cds_length": 1179,
          "cdna_start": 1107,
          "cdna_end": null,
          "cdna_length": 1530,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.714C>T",
          "hgvs_p": "p.Ala238Ala",
          "transcript": "ENST00000553186.5",
          "protein_id": "ENSP00000447753.1",
          "transcript_support_level": 1,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": 714,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": 1702,
          "cdna_end": null,
          "cdna_length": 2196,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.1272C>T",
          "hgvs_p": "p.Ala424Ala",
          "transcript": "ENST00000641259.1",
          "protein_id": "ENSP00000493041.1",
          "transcript_support_level": null,
          "aa_start": 424,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": 1272,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": 1357,
          "cdna_end": null,
          "cdna_length": 3651,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.1392C>T",
          "hgvs_p": "p.Ala464Ala",
          "transcript": "NM_001415887.1",
          "protein_id": "NP_001402816.1",
          "transcript_support_level": null,
          "aa_start": 464,
          "aa_end": null,
          "aa_length": 573,
          "cds_start": 1392,
          "cds_end": null,
          "cds_length": 1722,
          "cdna_start": 1438,
          "cdna_end": null,
          "cdna_length": 4485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.1311C>T",
          "hgvs_p": "p.Ala437Ala",
          "transcript": "NM_001415888.1",
          "protein_id": "NP_001402817.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 1357,
          "cdna_end": null,
          "cdna_length": 4351,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.924C>T",
          "hgvs_p": "p.Ala308Ala",
          "transcript": "NM_001411047.1",
          "protein_id": "NP_001397976.1",
          "transcript_support_level": null,
          "aa_start": 308,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 924,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": 1799,
          "cdna_end": null,
          "cdna_length": 2416,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.924C>T",
          "hgvs_p": "p.Ala308Ala",
          "transcript": "ENST00000547372.5",
          "protein_id": "ENSP00000446842.1",
          "transcript_support_level": 5,
          "aa_start": 308,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 924,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": 1230,
          "cdna_end": null,
          "cdna_length": 3524,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.903C>T",
          "hgvs_p": "p.Ala301Ala",
          "transcript": "NM_001415889.1",
          "protein_id": "NP_001402818.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": 903,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": 1017,
          "cdna_end": null,
          "cdna_length": 5193,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Ala290Ala",
          "transcript": "NM_001415890.1",
          "protein_id": "NP_001402819.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": 898,
          "cdna_end": null,
          "cdna_length": 5074,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.924C>T",
          "hgvs_p": "p.Ala308Ala",
          "transcript": "NM_001415891.1",
          "protein_id": "NP_001402820.1",
          "transcript_support_level": null,
          "aa_start": 308,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 924,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 1799,
          "cdna_end": null,
          "cdna_length": 4793,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.903C>T",
          "hgvs_p": "p.Ala301Ala",
          "transcript": "NM_001415892.1",
          "protein_id": "NP_001402821.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 903,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": 1017,
          "cdna_end": null,
          "cdna_length": 4011,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.924C>T",
          "hgvs_p": "p.Ala308Ala",
          "transcript": "NM_001308117.1",
          "protein_id": "NP_001295046.1",
          "transcript_support_level": null,
          "aa_start": 308,
          "aa_end": null,
          "aa_length": 425,
          "cds_start": 924,
          "cds_end": null,
          "cds_length": 1278,
          "cdna_start": 1120,
          "cdna_end": null,
          "cdna_length": 1684,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.924C>T",
          "hgvs_p": "p.Ala308Ala",
          "transcript": "ENST00000422070.8",
          "protein_id": "ENSP00000391269.4",
          "transcript_support_level": 2,
          "aa_start": 308,
          "aa_end": null,
          "aa_length": 425,
          "cds_start": 924,
          "cds_end": null,
          "cds_length": 1278,
          "cdna_start": 1120,
          "cdna_end": null,
          "cdna_length": 1684,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Ala290Ala",
          "transcript": "NM_001415893.1",
          "protein_id": "NP_001402822.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": 898,
          "cdna_end": null,
          "cdna_length": 3892,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX1",
          "gene_hgnc_id": 18222,
          "hgvs_c": "c.903C>T",
          "hgvs_p": "p.Ala301Ala",
          "transcript": "NM_001415894.1",
          "protein_id": "NP_001402823.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 418,
          "cds_start": 903,
          "cds_end": null,
          "cds_length": 1257,
          "cdna_start": 1017,
          "cdna_end": null,
          "cdna_length": 5140,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
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      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.27,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.022,
      "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": -15,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -15,
          "benign_score": 15,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000550418.6",
          "gene_symbol": "RBFOX1",
          "hgnc_id": 18222,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "Unknown,AD",
          "hgvs_c": "c.795C>T",
          "hgvs_p": "p.Ala265Ala"
        }
      ],
      "clinvar_disease": "Idiopathic generalized epilepsy,not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Idiopathic generalized epilepsy|not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}