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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: 16-89709273-TCC-CCG (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89709273&ref=TCC&alt=CCG&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "VPS9D1",
          "hgnc_id": 13526,
          "hgvs_c": "c.1549_1551delGGAinsCGG",
          "hgvs_p": "p.Gly517Arg",
          "inheritance_mode": "AR",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "NM_004913.3",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_score": 0,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "CCG",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "16",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": null,
      "computational_score_selected": null,
      "computational_source_selected": null,
      "consequences": [
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 631,
          "aa_ref": "G",
          "aa_start": 517,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2660,
          "cdna_start": 1588,
          "cds_end": null,
          "cds_length": 1896,
          "cds_start": 1549,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_004913.3",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1549_1551delGGAinsCGG",
          "hgvs_p": "p.Gly517Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000389386.8",
          "protein_coding": true,
          "protein_id": "NP_004904.2",
          "strand": false,
          "transcript": "NM_004913.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 631,
          "aa_ref": "G",
          "aa_start": 517,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 2660,
          "cdna_start": 1588,
          "cds_end": null,
          "cds_length": 1896,
          "cds_start": 1549,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000389386.8",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1549_1551delGGAinsCGG",
          "hgvs_p": "p.Gly517Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_004913.3",
          "protein_coding": true,
          "protein_id": "ENSP00000374037.3",
          "strand": false,
          "transcript": "ENST00000389386.8",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 561,
          "aa_ref": "G",
          "aa_start": 447,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 2791,
          "cdna_start": 1719,
          "cds_end": null,
          "cds_length": 1686,
          "cds_start": 1339,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000561976.5",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1339_1341delGGAinsCGG",
          "hgvs_p": "p.Gly447Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000454244.1",
          "strand": false,
          "transcript": "ENST00000561976.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 646,
          "aa_ref": "G",
          "aa_start": 532,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3006,
          "cdna_start": 1928,
          "cds_end": null,
          "cds_length": 1941,
          "cds_start": 1594,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000906741.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1594_1596delGGAinsCGG",
          "hgvs_p": "p.Gly532Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000576800.1",
          "strand": false,
          "transcript": "ENST00000906741.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 646,
          "aa_ref": "G",
          "aa_start": 532,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2728,
          "cdna_start": 1656,
          "cds_end": null,
          "cds_length": 1941,
          "cds_start": 1594,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000906743.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1594_1596delGGAinsCGG",
          "hgvs_p": "p.Gly532Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000576802.1",
          "strand": false,
          "transcript": "ENST00000906743.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 644,
          "aa_ref": "G",
          "aa_start": 530,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3126,
          "cdna_start": 2053,
          "cds_end": null,
          "cds_length": 1935,
          "cds_start": 1588,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000906740.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1588_1590delGGAinsCGG",
          "hgvs_p": "p.Gly530Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000576799.1",
          "strand": false,
          "transcript": "ENST00000906740.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 629,
          "aa_ref": "G",
          "aa_start": 515,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2622,
          "cdna_start": 1551,
          "cds_end": null,
          "cds_length": 1890,
          "cds_start": 1543,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000906745.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1543_1545delGGAinsCGG",
          "hgvs_p": "p.Gly515Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000576804.1",
          "strand": false,
          "transcript": "ENST00000906745.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 619,
          "aa_ref": "G",
          "aa_start": 505,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2592,
          "cdna_start": 1520,
          "cds_end": null,
          "cds_length": 1860,
          "cds_start": 1513,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000962839.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1513_1515delGGAinsCGG",
          "hgvs_p": "p.Gly505Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000632898.1",
          "strand": false,
          "transcript": "ENST00000962839.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 618,
          "aa_ref": "G",
          "aa_start": 504,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2606,
          "cdna_start": 1534,
          "cds_end": null,
          "cds_length": 1857,
          "cds_start": 1510,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000906744.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1510_1512delGGAinsCGG",
          "hgvs_p": "p.Gly504Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000576803.1",
          "strand": false,
          "transcript": "ENST00000906744.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 609,
          "aa_ref": "G",
          "aa_start": 495,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2623,
          "cdna_start": 1552,
          "cds_end": null,
          "cds_length": 1830,
          "cds_start": 1483,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000962838.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1483_1485delGGAinsCGG",
          "hgvs_p": "p.Gly495Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000632897.1",
          "strand": false,
          "transcript": "ENST00000962838.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 600,
          "aa_ref": "G",
          "aa_start": 486,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2629,
          "cdna_start": 1558,
          "cds_end": null,
          "cds_length": 1803,
          "cds_start": 1456,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000906742.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1456_1458delGGAinsCGG",
          "hgvs_p": "p.Gly486Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000576801.1",
          "strand": false,
          "transcript": "ENST00000906742.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 596,
          "aa_ref": "G",
          "aa_start": 517,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2585,
          "cdna_start": 1618,
          "cds_end": null,
          "cds_length": 1791,
          "cds_start": 1549,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000962837.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1549_1551delGGAinsCGG",
          "hgvs_p": "p.Gly517Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000632896.1",
          "strand": false,
          "transcript": "ENST00000962837.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 231,
          "aa_ref": "G",
          "aa_start": 117,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 775,
          "cdna_start": 353,
          "cds_end": null,
          "cds_length": 696,
          "cds_start": 349,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000565023.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.349_351delGGAinsCGG",
          "hgvs_p": "p.Gly117Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000455792.1",
          "strand": false,
          "transcript": "ENST00000565023.1",
          "transcript_support_level": 5
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 645,
          "aa_ref": "G",
          "aa_start": 531,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2702,
          "cdna_start": 1630,
          "cds_end": null,
          "cds_length": 1938,
          "cds_start": 1591,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_047434930.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1591_1593delGGAinsCGG",
          "hgvs_p": "p.Gly531Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047290886.1",
          "strand": false,
          "transcript": "XM_047434930.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 644,
          "aa_ref": "G",
          "aa_start": 530,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2699,
          "cdna_start": 1627,
          "cds_end": null,
          "cds_length": 1935,
          "cds_start": 1588,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_047434931.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1588_1590delGGAinsCGG",
          "hgvs_p": "p.Gly530Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047290887.1",
          "strand": false,
          "transcript": "XM_047434931.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 632,
          "aa_ref": "G",
          "aa_start": 518,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2663,
          "cdna_start": 1591,
          "cds_end": null,
          "cds_length": 1899,
          "cds_start": 1552,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_005256329.6",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1552_1554delGGAinsCGG",
          "hgvs_p": "p.Gly518Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_005256386.1",
          "strand": false,
          "transcript": "XM_005256329.6",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 631,
          "aa_ref": "G",
          "aa_start": 517,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2660,
          "cdna_start": 1588,
          "cds_end": null,
          "cds_length": 1896,
          "cds_start": 1549,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_011523476.4",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1549_1551delGGAinsCGG",
          "hgvs_p": "p.Gly517Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_011521778.1",
          "strand": false,
          "transcript": "XM_011523476.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 630,
          "aa_ref": "G",
          "aa_start": 516,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2657,
          "cdna_start": 1585,
          "cds_end": null,
          "cds_length": 1893,
          "cds_start": 1546,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_047434932.1",
          "gene_hgnc_id": 13526,
          "gene_symbol": "VPS9D1",
          "hgvs_c": "c.1546_1548delGGAinsCGG",
          "hgvs_p": "p.Gly516Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047290888.1",
          "strand": false,
          "transcript": "XM_047434932.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 611,
          "aa_ref": "G",
          "aa_start": 497,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2567,
          "cdna_start": 1495,
          "cds_end": null,
          "cds_length": 1836,
          "cds_start": 1489,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
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For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.