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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: 14-104714640-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104714640&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 104714640,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000392634.9",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser",
          "transcript": "NM_022489.4",
          "protein_id": "NP_071934.3",
          "transcript_support_level": null,
          "aa_start": 1160,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 3478,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 3609,
          "cdna_end": null,
          "cdna_length": 7623,
          "mane_select": "ENST00000392634.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser",
          "transcript": "ENST00000392634.9",
          "protein_id": "ENSP00000376410.4",
          "transcript_support_level": 5,
          "aa_start": 1160,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 3478,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 3609,
          "cdna_end": null,
          "cdna_length": 7623,
          "mane_select": "NM_022489.4",
          "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": 20,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "n.*327G>A",
          "hgvs_p": null,
          "transcript": "ENST00000617571.5",
          "protein_id": "ENSP00000483829.2",
          "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": 4556,
          "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": 20,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "n.*327G>A",
          "hgvs_p": null,
          "transcript": "ENST00000617571.5",
          "protein_id": "ENSP00000483829.2",
          "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": 4556,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3574G>A",
          "hgvs_p": "p.Gly1192Ser",
          "transcript": "ENST00000675207.1",
          "protein_id": "ENSP00000502644.1",
          "transcript_support_level": null,
          "aa_start": 1192,
          "aa_end": null,
          "aa_length": 1281,
          "cds_start": 3574,
          "cds_end": null,
          "cds_length": 3846,
          "cdna_start": 3718,
          "cdna_end": null,
          "cdna_length": 7732,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser",
          "transcript": "NM_001426862.1",
          "protein_id": "NP_001413791.1",
          "transcript_support_level": null,
          "aa_start": 1160,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": 3478,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": 3609,
          "cdna_end": null,
          "cdna_length": 7650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3496G>A",
          "hgvs_p": "p.Gly1166Ser",
          "transcript": "ENST00000675980.1",
          "protein_id": "ENSP00000502520.1",
          "transcript_support_level": null,
          "aa_start": 1166,
          "aa_end": null,
          "aa_length": 1255,
          "cds_start": 3496,
          "cds_end": null,
          "cds_length": 3768,
          "cdna_start": 3496,
          "cdna_end": null,
          "cdna_length": 3768,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser",
          "transcript": "ENST00000675481.1",
          "protein_id": "ENSP00000502723.1",
          "transcript_support_level": null,
          "aa_start": 1160,
          "aa_end": null,
          "aa_length": 1250,
          "cds_start": 3478,
          "cds_end": null,
          "cds_length": 3753,
          "cdna_start": 3478,
          "cdna_end": null,
          "cdna_length": 3754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser",
          "transcript": "NM_001426863.1",
          "protein_id": "NP_001413792.1",
          "transcript_support_level": null,
          "aa_start": 1160,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 3478,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 3937,
          "cdna_end": null,
          "cdna_length": 7951,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser",
          "transcript": "NM_001426864.1",
          "protein_id": "NP_001413793.1",
          "transcript_support_level": null,
          "aa_start": 1160,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 3478,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 3747,
          "cdna_end": null,
          "cdna_length": 7761,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3454G>A",
          "hgvs_p": "p.Gly1152Ser",
          "transcript": "ENST00000675329.1",
          "protein_id": "ENSP00000502287.1",
          "transcript_support_level": null,
          "aa_start": 1152,
          "aa_end": null,
          "aa_length": 1241,
          "cds_start": 3454,
          "cds_end": null,
          "cds_length": 3726,
          "cdna_start": 3454,
          "cdna_end": null,
          "cdna_length": 3726,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser",
          "transcript": "NM_001031714.4",
          "protein_id": "NP_001026884.3",
          "transcript_support_level": null,
          "aa_start": 1160,
          "aa_end": null,
          "aa_length": 1240,
          "cds_start": 3478,
          "cds_end": null,
          "cds_length": 3723,
          "cdna_start": 3609,
          "cdna_end": null,
          "cdna_length": 7566,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser",
          "transcript": "NM_001426865.1",
          "protein_id": "NP_001413794.1",
          "transcript_support_level": null,
          "aa_start": 1160,
          "aa_end": null,
          "aa_length": 1240,
          "cds_start": 3478,
          "cds_end": null,
          "cds_length": 3723,
          "cdna_start": 3937,
          "cdna_end": null,
          "cdna_length": 7894,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser",
          "transcript": "ENST00000330634.11",
          "protein_id": "ENSP00000376406.3",
          "transcript_support_level": 5,
          "aa_start": 1160,
          "aa_end": null,
          "aa_length": 1240,
          "cds_start": 3478,
          "cds_end": null,
          "cds_length": 3723,
          "cdna_start": 3621,
          "cdna_end": null,
          "cdna_length": 7578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.3397G>A",
          "hgvs_p": "p.Gly1133Ser",
          "transcript": "ENST00000675638.1",
          "protein_id": "ENSP00000501647.1",
          "transcript_support_level": null,
          "aa_start": 1133,
          "aa_end": null,
          "aa_length": 1222,
          "cds_start": 3397,
          "cds_end": null,
          "cds_length": 3669,
          "cdna_start": 3397,
          "cdna_end": null,
          "cdna_length": 7411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.2728G>A",
          "hgvs_p": "p.Gly910Ser",
          "transcript": "ENST00000674991.1",
          "protein_id": "ENSP00000502004.1",
          "transcript_support_level": null,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 980,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 2944,
          "cdna_start": 2728,
          "cdna_end": null,
          "cdna_length": 2944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "c.1516G>A",
          "hgvs_p": "p.Gly506Ser",
          "transcript": "ENST00000674631.1",
          "protein_id": "ENSP00000502830.1",
          "transcript_support_level": null,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": 1516,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": 1516,
          "cdna_end": null,
          "cdna_length": 2200,
          "mane_select": null,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "n.1882G>A",
          "hgvs_p": null,
          "transcript": "ENST00000252527.8",
          "protein_id": "ENSP00000252527.8",
          "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": 3050,
          "mane_select": null,
          "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": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "n.*836G>A",
          "hgvs_p": null,
          "transcript": "ENST00000674520.1",
          "protein_id": "ENSP00000502593.1",
          "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": 3689,
          "mane_select": null,
          "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": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
          "gene_hgnc_id": 23791,
          "hgvs_c": "n.*1151G>A",
          "hgvs_p": null,
          "transcript": "ENST00000674662.1",
          "protein_id": "ENSP00000501895.1",
          "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": 3755,
          "mane_select": null,
          "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": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "INF2",
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      ],
      "gene_symbol": "INF2",
      "gene_hgnc_id": 23791,
      "dbsnp": "rs9672065",
      "frequency_reference_population": 0.0038733538,
      "hom_count_reference_population": 150,
      "allele_count_reference_population": 6246,
      "gnomad_exomes_af": 0.00242562,
      "gnomad_genomes_af": 0.0177535,
      "gnomad_exomes_ac": 3542,
      "gnomad_genomes_ac": 2704,
      "gnomad_exomes_homalt": 85,
      "gnomad_genomes_homalt": 65,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.0020544826984405518,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.17,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0743,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.66,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.465,
      "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": -20,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000392634.9",
          "gene_symbol": "INF2",
          "hgnc_id": 23791,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.3478G>A",
          "hgvs_p": "p.Gly1160Ser"
        }
      ],
      "clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate E,Focal segmental glomerulosclerosis,Focal segmental glomerulosclerosis 5,not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:7",
      "phenotype_combined": "Focal segmental glomerulosclerosis 5|not provided|not specified|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Focal segmental glomerulosclerosis",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}