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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: 3-94036663-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=94036663&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 94036663,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000394222.8",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.598C>T",
          "hgvs_p": "p.Arg200Cys",
          "transcript": "NM_001174150.2",
          "protein_id": "NP_001167621.1",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": 867,
          "cdna_end": null,
          "cdna_length": 3971,
          "mane_select": "ENST00000394222.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.598C>T",
          "hgvs_p": "p.Arg200Cys",
          "transcript": "ENST00000394222.8",
          "protein_id": "ENSP00000377769.3",
          "transcript_support_level": 1,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": 867,
          "cdna_end": null,
          "cdna_length": 3971,
          "mane_select": "NM_001174150.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.598C>T",
          "hgvs_p": "p.Arg200Cys",
          "transcript": "ENST00000471138.5",
          "protein_id": "ENSP00000420780.1",
          "transcript_support_level": 1,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": 867,
          "cdna_end": null,
          "cdna_length": 2206,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.289C>T",
          "hgvs_p": "p.Arg97Cys",
          "transcript": "ENST00000535334.5",
          "protein_id": "ENSP00000445145.1",
          "transcript_support_level": 1,
          "aa_start": 97,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 289,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 812,
          "cdna_end": null,
          "cdna_length": 3906,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.277C>T",
          "hgvs_p": "p.Arg93Cys",
          "transcript": "ENST00000303097.11",
          "protein_id": "ENSP00000306225.7",
          "transcript_support_level": 1,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 321,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 966,
          "cdna_start": 559,
          "cdna_end": null,
          "cdna_length": 3264,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "n.*450C>T",
          "hgvs_p": null,
          "transcript": "ENST00000335438.7",
          "protein_id": "ENSP00000335400.3",
          "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": 3659,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "n.*71C>T",
          "hgvs_p": null,
          "transcript": "ENST00000460371.5",
          "protein_id": "ENSP00000417263.1",
          "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": 3203,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "n.*450C>T",
          "hgvs_p": null,
          "transcript": "ENST00000335438.7",
          "protein_id": "ENSP00000335400.3",
          "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": 3659,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "n.*71C>T",
          "hgvs_p": null,
          "transcript": "ENST00000460371.5",
          "protein_id": "ENSP00000417263.1",
          "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": 3203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.-240C>T",
          "hgvs_p": null,
          "transcript": "ENST00000679607.1",
          "protein_id": "ENSP00000505148.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 149,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 450,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.598C>T",
          "hgvs_p": "p.Arg200Cys",
          "transcript": "ENST00000681380.1",
          "protein_id": "ENSP00000505402.1",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": 880,
          "cdna_end": null,
          "cdna_length": 3524,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.598C>T",
          "hgvs_p": "p.Arg200Cys",
          "transcript": "NM_182896.3",
          "protein_id": "NP_878899.1",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": 867,
          "cdna_end": null,
          "cdna_length": 3815,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.553C>T",
          "hgvs_p": "p.Arg185Cys",
          "transcript": "NM_001321328.2",
          "protein_id": "NP_001308257.1",
          "transcript_support_level": null,
          "aa_start": 185,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": 553,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": 989,
          "cdna_end": null,
          "cdna_length": 4093,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.547C>T",
          "hgvs_p": "p.Arg183Cys",
          "transcript": "ENST00000679872.1",
          "protein_id": "ENSP00000505607.1",
          "transcript_support_level": null,
          "aa_start": 183,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": 547,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": 1160,
          "cdna_end": null,
          "cdna_length": 3717,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.598C>T",
          "hgvs_p": "p.Arg200Cys",
          "transcript": "NM_001410782.1",
          "protein_id": "NP_001397711.1",
          "transcript_support_level": null,
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          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1218,
          "cdna_start": 867,
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          "cdna_length": 3902,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.598C>T",
          "hgvs_p": "p.Arg200Cys",
          "transcript": "ENST00000679587.1",
          "protein_id": "ENSP00000505396.1",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 405,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1218,
          "cdna_start": 693,
          "cdna_end": null,
          "cdna_length": 1654,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.523C>T",
          "hgvs_p": "p.Arg175Cys",
          "transcript": "ENST00000679404.1",
          "protein_id": "ENSP00000505252.1",
          "transcript_support_level": null,
          "aa_start": 175,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": 523,
          "cds_end": null,
          "cds_length": 1212,
          "cdna_start": 1141,
          "cdna_end": null,
          "cdna_length": 3787,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.523C>T",
          "hgvs_p": "p.Arg175Cys",
          "transcript": "ENST00000681655.1",
          "protein_id": "ENSP00000505036.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 403,
          "cds_start": 523,
          "cds_end": null,
          "cds_length": 1212,
          "cdna_start": 897,
          "cdna_end": null,
          "cdna_length": 3454,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.289C>T",
          "hgvs_p": "p.Arg97Cys",
          "transcript": "NM_001174151.2",
          "protein_id": "NP_001167622.1",
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          "aa_start": 97,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 289,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 796,
          "cdna_end": null,
          "cdna_length": 3900,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
          "hgvs_c": "c.277C>T",
          "hgvs_p": "p.Arg93Cys",
          "transcript": "NM_144996.4",
          "protein_id": "NP_659433.2",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 321,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 966,
          "cdna_start": 546,
          "cdna_end": null,
          "cdna_length": 3650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARL13B",
          "gene_hgnc_id": 25419,
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        {
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          "hgvs_c": "c.-32-12743C>T",
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      ],
      "gene_symbol": "ARL13B",
      "gene_hgnc_id": 25419,
      "dbsnp": "rs121912608",
      "frequency_reference_population": 0.0000020522307,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": 0.00000205223,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 3,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9561420679092407,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.787,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.4892,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.32,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 4.523,
      "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": 16,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
      "acmg_by_gene": [
        {
          "score": 16,
          "benign_score": 0,
          "pathogenic_score": 16,
          "criteria": [
            "PM2",
            "PM5",
            "PP3_Strong",
            "PP5_Very_Strong"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000394222.8",
          "gene_symbol": "ARL13B",
          "hgnc_id": 25419,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.598C>T",
          "hgvs_p": "p.Arg200Cys"
        }
      ],
      "clinvar_disease": "Joubert syndrome 8,Joubert syndrome and related disorders",
      "clinvar_classification": "Pathogenic/Likely pathogenic",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "P:1 LP:2",
      "phenotype_combined": "Joubert syndrome 8|Joubert syndrome and related disorders",
      "pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}