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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: 19-36083161-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36083161&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 36083161,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001083961.2",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "NM_001083961.2",
          "protein_id": "NP_001077430.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1523,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000401500.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001083961.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "ENST00000401500.7",
          "protein_id": "ENSP00000384792.1",
          "transcript_support_level": 1,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1523,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001083961.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000401500.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "n.*160C>G",
          "hgvs_p": null,
          "transcript": "ENST00000587391.6",
          "protein_id": "ENSP00000465525.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000587391.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "n.*160C>G",
          "hgvs_p": null,
          "transcript": "ENST00000587391.6",
          "protein_id": "ENSP00000465525.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000587391.6"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1464C>G",
          "hgvs_p": "p.Asp488Glu",
          "transcript": "ENST00000679714.1",
          "protein_id": "ENSP00000506627.1",
          "transcript_support_level": null,
          "aa_start": 488,
          "aa_end": null,
          "aa_length": 1521,
          "cds_start": 1464,
          "cds_end": null,
          "cds_length": 4566,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000679714.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1455C>G",
          "hgvs_p": "p.Asp485Glu",
          "transcript": "NM_001411145.1",
          "protein_id": "NP_001398074.1",
          "transcript_support_level": null,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 1455,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001411145.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "NM_173636.5",
          "protein_id": "NP_775907.4",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_173636.5"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "ENST00000270301.12",
          "protein_id": "ENSP00000270301.6",
          "transcript_support_level": 5,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000270301.12"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1455C>G",
          "hgvs_p": "p.Asp485Glu",
          "transcript": "ENST00000679682.1",
          "protein_id": "ENSP00000506226.1",
          "transcript_support_level": null,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 1455,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000679682.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "NM_001411146.1",
          "protein_id": "NP_001398075.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001411146.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "ENST00000680564.1",
          "protein_id": "ENSP00000505582.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000680564.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "ENST00000680403.1",
          "protein_id": "ENSP00000505677.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1434,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4305,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000680403.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1119C>G",
          "hgvs_p": "p.Asp373Glu",
          "transcript": "NM_001411147.1",
          "protein_id": "NP_001398076.1",
          "transcript_support_level": null,
          "aa_start": 373,
          "aa_end": null,
          "aa_length": 1406,
          "cds_start": 1119,
          "cds_end": null,
          "cds_length": 4221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001411147.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1119C>G",
          "hgvs_p": "p.Asp373Glu",
          "transcript": "ENST00000679757.1",
          "protein_id": "ENSP00000505158.1",
          "transcript_support_level": null,
          "aa_start": 373,
          "aa_end": null,
          "aa_length": 1406,
          "cds_start": 1119,
          "cds_end": null,
          "cds_length": 4221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000679757.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "ENST00000680359.1",
          "protein_id": "ENSP00000506079.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000680359.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "XM_017026665.2",
          "protein_id": "XP_016882154.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1523,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017026665.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1455C>G",
          "hgvs_p": "p.Asp485Glu",
          "transcript": "XM_047438657.1",
          "protein_id": "XP_047294613.1",
          "transcript_support_level": null,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 1513,
          "cds_start": 1455,
          "cds_end": null,
          "cds_length": 4542,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047438657.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "XM_005258809.3",
          "protein_id": "XP_005258866.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1486,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005258809.3"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu",
          "transcript": "XM_047438658.1",
          "protein_id": "XP_047294614.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1481,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 4446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047438658.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1455C>G",
          "hgvs_p": "p.Asp485Glu",
          "transcript": "XM_047438659.1",
          "protein_id": "XP_047294615.1",
          "transcript_support_level": null,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 1481,
          "cds_start": 1455,
          "cds_end": null,
          "cds_length": 4446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "feature": "ENST00000680806.1"
        }
      ],
      "gene_symbol": "WDR62",
      "gene_hgnc_id": 24502,
      "dbsnp": "rs45567532",
      "frequency_reference_population": 0.000006574449,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00000657445,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.273485004901886,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.28999999165534973,
      "splice_prediction_selected": "Uncertain_significance",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.156,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.3249,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.59,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.84,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.29,
      "spliceai_max_prediction": "Uncertain_significance",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM1,PM2",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM1",
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001083961.2",
          "gene_symbol": "WDR62",
          "hgnc_id": 24502,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1470C>G",
          "hgvs_p": "p.Asp490Glu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}