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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: 12-32625774-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32625774&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 32625774,
      "ref": "G",
      "alt": "T",
      "effect": "stop_gained",
      "transcript": "ENST00000534526.7",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2167G>T",
          "hgvs_p": "p.Gly723*",
          "transcript": "NM_001370298.3",
          "protein_id": "NP_001357227.2",
          "transcript_support_level": null,
          "aa_start": 723,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": 2167,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": 2403,
          "cdna_end": null,
          "cdna_length": 8465,
          "mane_select": "ENST00000534526.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2167G>T",
          "hgvs_p": "p.Gly723*",
          "transcript": "ENST00000534526.7",
          "protein_id": "ENSP00000449273.1",
          "transcript_support_level": 5,
          "aa_start": 723,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": 2167,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": 2403,
          "cdna_end": null,
          "cdna_length": 8465,
          "mane_select": "NM_001370298.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1148G>T",
          "hgvs_p": null,
          "transcript": "ENST00000395740.5",
          "protein_id": "ENSP00000379089.1",
          "transcript_support_level": 1,
          "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": 2691,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1148G>T",
          "hgvs_p": null,
          "transcript": "ENST00000395740.5",
          "protein_id": "ENSP00000379089.1",
          "transcript_support_level": 1,
          "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": 2691,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2167G>T",
          "hgvs_p": "p.Gly723*",
          "transcript": "NM_001384126.1",
          "protein_id": "NP_001371055.1",
          "transcript_support_level": null,
          "aa_start": 723,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 2167,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2403,
          "cdna_end": null,
          "cdna_length": 4325,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2011G>T",
          "hgvs_p": "p.Gly671*",
          "transcript": "NM_001304481.2",
          "protein_id": "NP_001291410.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 2011,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 2173,
          "cdna_end": null,
          "cdna_length": 8235,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2011G>T",
          "hgvs_p": "p.Gly671*",
          "transcript": "ENST00000531134.7",
          "protein_id": "ENSP00000431323.1",
          "transcript_support_level": 2,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 2011,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 2173,
          "cdna_end": null,
          "cdna_length": 2924,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1756G>T",
          "hgvs_p": "p.Gly586*",
          "transcript": "NM_001385118.1",
          "protein_id": "NP_001372047.1",
          "transcript_support_level": null,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2178,
          "cdna_end": null,
          "cdna_length": 8240,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1756G>T",
          "hgvs_p": "p.Gly586*",
          "transcript": "NM_139241.3",
          "protein_id": "NP_640334.2",
          "transcript_support_level": null,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2297,
          "cdna_end": null,
          "cdna_length": 8359,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1756G>T",
          "hgvs_p": "p.Gly586*",
          "transcript": "ENST00000427716.7",
          "protein_id": "ENSP00000394487.2",
          "transcript_support_level": 2,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2305,
          "cdna_end": null,
          "cdna_length": 7194,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1756G>T",
          "hgvs_p": "p.Gly586*",
          "transcript": "ENST00000525053.6",
          "protein_id": "ENSP00000433666.2",
          "transcript_support_level": 2,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2176,
          "cdna_end": null,
          "cdna_length": 2925,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1756G>T",
          "hgvs_p": "p.Gly586*",
          "transcript": "ENST00000583694.2",
          "protein_id": "ENSP00000462623.2",
          "transcript_support_level": 3,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2180,
          "cdna_end": null,
          "cdna_length": 2931,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1756G>T",
          "hgvs_p": "p.Gly586*",
          "transcript": "NM_001384127.1",
          "protein_id": "NP_001371056.1",
          "transcript_support_level": null,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": 2177,
          "cdna_end": null,
          "cdna_length": 4099,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1756G>T",
          "hgvs_p": "p.Gly586*",
          "transcript": "NM_001384128.1",
          "protein_id": "NP_001371057.1",
          "transcript_support_level": null,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": 2178,
          "cdna_end": null,
          "cdna_length": 4100,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1477G>T",
          "hgvs_p": "p.Gly493*",
          "transcript": "NM_001330373.2",
          "protein_id": "NP_001317302.1",
          "transcript_support_level": null,
          "aa_start": 493,
          "aa_end": null,
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          "cds_start": 1477,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 1993,
          "cdna_end": null,
          "cdna_length": 8055,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1477G>T",
          "hgvs_p": "p.Gly493*",
          "transcript": "NM_001330374.2",
          "protein_id": "NP_001317303.1",
          "transcript_support_level": null,
          "aa_start": 493,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1477,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 1989,
          "cdna_end": null,
          "cdna_length": 8051,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1477G>T",
          "hgvs_p": "p.Gly493*",
          "transcript": "NM_001384130.1",
          "protein_id": "NP_001371059.1",
          "transcript_support_level": null,
          "aa_start": 493,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1477,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 1994,
          "cdna_end": null,
          "cdna_length": 8056,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1477G>T",
          "hgvs_p": "p.Gly493*",
          "transcript": "ENST00000546442.5",
          "protein_id": "ENSP00000446695.1",
          "transcript_support_level": 5,
          "aa_start": 493,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1477,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 1972,
          "cdna_end": null,
          "cdna_length": 3503,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1477G>T",
          "hgvs_p": "p.Gly493*",
          "transcript": "ENST00000682739.1",
          "protein_id": "ENSP00000507616.1",
          "transcript_support_level": null,
          "aa_start": 493,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1477,
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          "cds_length": 2022,
          "cdna_start": 2711,
          "cdna_end": null,
          "cdna_length": 3373,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1204G>T",
          "hgvs_p": "p.Gly402*",
          "transcript": "NM_001370297.1",
          "protein_id": "NP_001357226.1",
          "transcript_support_level": null,
          "aa_start": 402,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": 1204,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": 1485,
          "cdna_end": null,
          "cdna_length": 7547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
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      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 9.062,
      "phylop100way_prediction": "Pathogenic",
      "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": 11,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP5",
      "acmg_by_gene": [
        {
          "score": 11,
          "benign_score": 0,
          "pathogenic_score": 11,
          "criteria": [
            "PVS1",
            "PM2",
            "PP5"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000534526.7",
          "gene_symbol": "FGD4",
          "hgnc_id": 19125,
          "effects": [
            "stop_gained"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2167G>T",
          "hgvs_p": "p.Gly723*"
        }
      ],
      "clinvar_disease": "Charcot-Marie-Tooth disease type 4H",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Charcot-Marie-Tooth disease type 4H",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}