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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: 6-121080850-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=121080850&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 121080850,
      "ref": "T",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_152730.6",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3695A>C",
          "hgvs_p": "p.Glu1232Ala",
          "transcript": "NM_152730.6",
          "protein_id": "NP_689943.4",
          "transcript_support_level": null,
          "aa_start": 1232,
          "aa_end": null,
          "aa_length": 1257,
          "cds_start": 3695,
          "cds_end": null,
          "cds_length": 3774,
          "cdna_start": 3745,
          "cdna_end": null,
          "cdna_length": 5101,
          "mane_select": "ENST00000398212.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3695A>C",
          "hgvs_p": "p.Glu1232Ala",
          "transcript": "ENST00000398212.7",
          "protein_id": "ENSP00000381270.2",
          "transcript_support_level": 5,
          "aa_start": 1232,
          "aa_end": null,
          "aa_length": 1257,
          "cds_start": 3695,
          "cds_end": null,
          "cds_length": 3774,
          "cdna_start": 3745,
          "cdna_end": null,
          "cdna_length": 5101,
          "mane_select": "NM_152730.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3818A>C",
          "hgvs_p": "p.Glu1273Ala",
          "transcript": "ENST00000275159.11",
          "protein_id": "ENSP00000275159.6",
          "transcript_support_level": 5,
          "aa_start": 1273,
          "aa_end": null,
          "aa_length": 1298,
          "cds_start": 3818,
          "cds_end": null,
          "cds_length": 3897,
          "cdna_start": 3868,
          "cdna_end": null,
          "cdna_length": 5224,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "n.*4335A>C",
          "hgvs_p": null,
          "transcript": "ENST00000464622.5",
          "protein_id": "ENSP00000428839.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5323,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "n.*4335A>C",
          "hgvs_p": null,
          "transcript": "ENST00000464622.5",
          "protein_id": "ENSP00000428839.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5323,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3818A>C",
          "hgvs_p": "p.Glu1273Ala",
          "transcript": "NM_001367759.1",
          "protein_id": "NP_001354688.1",
          "transcript_support_level": null,
          "aa_start": 1273,
          "aa_end": null,
          "aa_length": 1298,
          "cds_start": 3818,
          "cds_end": null,
          "cds_length": 3897,
          "cdna_start": 3931,
          "cdna_end": null,
          "cdna_length": 5287,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3818A>C",
          "hgvs_p": "p.Glu1273Ala",
          "transcript": "NM_001367760.1",
          "protein_id": "NP_001354689.1",
          "transcript_support_level": null,
          "aa_start": 1273,
          "aa_end": null,
          "aa_length": 1298,
          "cds_start": 3818,
          "cds_end": null,
          "cds_length": 3897,
          "cdna_start": 3868,
          "cdna_end": null,
          "cdna_length": 5224,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3881A>C",
          "hgvs_p": "p.Glu1294Ala",
          "transcript": "XM_011535570.2",
          "protein_id": "XP_011533872.1",
          "transcript_support_level": null,
          "aa_start": 1294,
          "aa_end": null,
          "aa_length": 1319,
          "cds_start": 3881,
          "cds_end": null,
          "cds_length": 3960,
          "cdna_start": 3994,
          "cdna_end": null,
          "cdna_length": 5350,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3881A>C",
          "hgvs_p": "p.Glu1294Ala",
          "transcript": "XM_011535571.4",
          "protein_id": "XP_011533873.1",
          "transcript_support_level": null,
          "aa_start": 1294,
          "aa_end": null,
          "aa_length": 1319,
          "cds_start": 3881,
          "cds_end": null,
          "cds_length": 3960,
          "cdna_start": 3999,
          "cdna_end": null,
          "cdna_length": 5355,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3818A>C",
          "hgvs_p": "p.Glu1273Ala",
          "transcript": "XM_017010398.3",
          "protein_id": "XP_016865887.1",
          "transcript_support_level": null,
          "aa_start": 1273,
          "aa_end": null,
          "aa_length": 1298,
          "cds_start": 3818,
          "cds_end": null,
          "cds_length": 3897,
          "cdna_start": 3936,
          "cdna_end": null,
          "cdna_length": 5292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3758A>C",
          "hgvs_p": "p.Glu1253Ala",
          "transcript": "XM_047418309.1",
          "protein_id": "XP_047274265.1",
          "transcript_support_level": null,
          "aa_start": 1253,
          "aa_end": null,
          "aa_length": 1278,
          "cds_start": 3758,
          "cds_end": null,
          "cds_length": 3837,
          "cdna_start": 3808,
          "cdna_end": null,
          "cdna_length": 5164,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3755A>C",
          "hgvs_p": "p.Glu1252Ala",
          "transcript": "XM_047418310.1",
          "protein_id": "XP_047274266.1",
          "transcript_support_level": null,
          "aa_start": 1252,
          "aa_end": null,
          "aa_length": 1277,
          "cds_start": 3755,
          "cds_end": null,
          "cds_length": 3834,
          "cdna_start": 3805,
          "cdna_end": null,
          "cdna_length": 5161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3692A>C",
          "hgvs_p": "p.Glu1231Ala",
          "transcript": "XM_047418311.1",
          "protein_id": "XP_047274267.1",
          "transcript_support_level": null,
          "aa_start": 1231,
          "aa_end": null,
          "aa_length": 1256,
          "cds_start": 3692,
          "cds_end": null,
          "cds_length": 3771,
          "cdna_start": 3805,
          "cdna_end": null,
          "cdna_length": 5161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.3554A>C",
          "hgvs_p": "p.Glu1185Ala",
          "transcript": "XM_011535574.2",
          "protein_id": "XP_011533876.1",
          "transcript_support_level": null,
          "aa_start": 1185,
          "aa_end": null,
          "aa_length": 1210,
          "cds_start": 3554,
          "cds_end": null,
          "cds_length": 3633,
          "cdna_start": 3668,
          "cdna_end": null,
          "cdna_length": 5024,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.2702A>C",
          "hgvs_p": "p.Glu901Ala",
          "transcript": "XM_011535580.3",
          "protein_id": "XP_011533882.1",
          "transcript_support_level": null,
          "aa_start": 901,
          "aa_end": null,
          "aa_length": 926,
          "cds_start": 2702,
          "cds_end": null,
          "cds_length": 2781,
          "cdna_start": 2795,
          "cdna_end": null,
          "cdna_length": 4151,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "c.2069A>C",
          "hgvs_p": "p.Glu690Ala",
          "transcript": "XM_017010404.1",
          "protein_id": "XP_016865893.1",
          "transcript_support_level": null,
          "aa_start": 690,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": 2069,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": 2222,
          "cdna_end": null,
          "cdna_length": 3578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "n.1334A>C",
          "hgvs_p": null,
          "transcript": "ENST00000398197.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2690,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "n.4712A>C",
          "hgvs_p": null,
          "transcript": "NR_104452.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6068,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D32",
          "gene_hgnc_id": 21485,
          "hgvs_c": "n.*9A>C",
          "hgvs_p": null,
          "transcript": "ENST00000519972.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 369,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "TBC1D32",
      "gene_hgnc_id": 21485,
      "dbsnp": "rs56300302",
      "frequency_reference_population": 0.016323091,
      "hom_count_reference_population": 258,
      "allele_count_reference_population": 26344,
      "gnomad_exomes_af": 0.0165221,
      "gnomad_genomes_af": 0.0144135,
      "gnomad_exomes_ac": 24149,
      "gnomad_genomes_ac": 2195,
      "gnomad_exomes_homalt": 244,
      "gnomad_genomes_homalt": 14,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.005561113357543945,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.047,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1158,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.35,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.155,
      "phylop100way_prediction": "Uncertain_significance",
      "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": -20,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_152730.6",
          "gene_symbol": "TBC1D32",
          "hgnc_id": 21485,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR,Unknown",
          "hgvs_c": "c.3695A>C",
          "hgvs_p": "p.Glu1232Ala"
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}