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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: 19-36104957-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36104957&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 36104957,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000401500.7",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4501C>A",
          "hgvs_p": "p.Leu1501Met",
          "transcript": "NM_001083961.2",
          "protein_id": "NP_001077430.1",
          "transcript_support_level": null,
          "aa_start": 1501,
          "aa_end": null,
          "aa_length": 1523,
          "cds_start": 4501,
          "cds_end": null,
          "cds_length": 4572,
          "cdna_start": 4576,
          "cdna_end": null,
          "cdna_length": 4727,
          "mane_select": "ENST00000401500.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4501C>A",
          "hgvs_p": "p.Leu1501Met",
          "transcript": "ENST00000401500.7",
          "protein_id": "ENSP00000384792.1",
          "transcript_support_level": 1,
          "aa_start": 1501,
          "aa_end": null,
          "aa_length": 1523,
          "cds_start": 4501,
          "cds_end": null,
          "cds_length": 4572,
          "cdna_start": 4576,
          "cdna_end": null,
          "cdna_length": 4727,
          "mane_select": "NM_001083961.2",
          "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": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "n.*4361C>A",
          "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": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5973,
          "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": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "n.*4361C>A",
          "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": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4495C>A",
          "hgvs_p": "p.Leu1499Met",
          "transcript": "ENST00000679714.1",
          "protein_id": "ENSP00000506627.1",
          "transcript_support_level": null,
          "aa_start": 1499,
          "aa_end": null,
          "aa_length": 1521,
          "cds_start": 4495,
          "cds_end": null,
          "cds_length": 4566,
          "cdna_start": 4570,
          "cdna_end": null,
          "cdna_length": 4708,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4486C>A",
          "hgvs_p": "p.Leu1496Met",
          "transcript": "NM_001411145.1",
          "protein_id": "NP_001398074.1",
          "transcript_support_level": null,
          "aa_start": 1496,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 4486,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": 4561,
          "cdna_end": null,
          "cdna_length": 4712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4486C>A",
          "hgvs_p": "p.Leu1496Met",
          "transcript": "NM_173636.5",
          "protein_id": "NP_775907.4",
          "transcript_support_level": null,
          "aa_start": 1496,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 4486,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": 4561,
          "cdna_end": null,
          "cdna_length": 4712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4486C>A",
          "hgvs_p": "p.Leu1496Met",
          "transcript": "ENST00000270301.12",
          "protein_id": "ENSP00000270301.6",
          "transcript_support_level": 5,
          "aa_start": 1496,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 4486,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": 4486,
          "cdna_end": null,
          "cdna_length": 4634,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4486C>A",
          "hgvs_p": "p.Leu1496Met",
          "transcript": "ENST00000679682.1",
          "protein_id": "ENSP00000506226.1",
          "transcript_support_level": null,
          "aa_start": 1496,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 4486,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": 4561,
          "cdna_end": null,
          "cdna_length": 4702,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4252C>A",
          "hgvs_p": "p.Leu1418Met",
          "transcript": "NM_001411146.1",
          "protein_id": "NP_001398075.1",
          "transcript_support_level": null,
          "aa_start": 1418,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": 4252,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": 4327,
          "cdna_end": null,
          "cdna_length": 4478,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4252C>A",
          "hgvs_p": "p.Leu1418Met",
          "transcript": "ENST00000680564.1",
          "protein_id": "ENSP00000505582.1",
          "transcript_support_level": null,
          "aa_start": 1418,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": 4252,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": 4327,
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          "cdna_length": 4478,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4150C>A",
          "hgvs_p": "p.Leu1384Met",
          "transcript": "NM_001411147.1",
          "protein_id": "NP_001398076.1",
          "transcript_support_level": null,
          "aa_start": 1384,
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          "aa_length": 1406,
          "cds_start": 4150,
          "cds_end": null,
          "cds_length": 4221,
          "cdna_start": 4225,
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          "cdna_length": 4376,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4150C>A",
          "hgvs_p": "p.Leu1384Met",
          "transcript": "ENST00000679757.1",
          "protein_id": "ENSP00000505158.1",
          "transcript_support_level": null,
          "aa_start": 1384,
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          "aa_length": 1406,
          "cds_start": 4150,
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          "cdna_start": 4192,
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          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.1102C>A",
          "hgvs_p": "p.Leu368Met",
          "transcript": "ENST00000680211.1",
          "protein_id": "ENSP00000506102.1",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 390,
          "cds_start": 1102,
          "cds_end": null,
          "cds_length": 1173,
          "cdna_start": 1915,
          "cdna_end": null,
          "cdna_length": 2066,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4501C>A",
          "hgvs_p": "p.Leu1501Met",
          "transcript": "XM_017026665.2",
          "protein_id": "XP_016882154.1",
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          "cdna_start": 4576,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4471C>A",
          "hgvs_p": "p.Leu1491Met",
          "transcript": "XM_047438657.1",
          "protein_id": "XP_047294613.1",
          "transcript_support_level": null,
          "aa_start": 1491,
          "aa_end": null,
          "aa_length": 1513,
          "cds_start": 4471,
          "cds_end": null,
          "cds_length": 4542,
          "cdna_start": 4546,
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          "cdna_length": 4697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4390C>A",
          "hgvs_p": "p.Leu1464Met",
          "transcript": "XM_005258809.3",
          "protein_id": "XP_005258866.1",
          "transcript_support_level": null,
          "aa_start": 1464,
          "aa_end": null,
          "aa_length": 1486,
          "cds_start": 4390,
          "cds_end": null,
          "cds_length": 4461,
          "cdna_start": 4465,
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          "cdna_length": 4616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4375C>A",
          "hgvs_p": "p.Leu1459Met",
          "transcript": "XM_047438658.1",
          "protein_id": "XP_047294614.1",
          "transcript_support_level": null,
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          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4375C>A",
          "hgvs_p": "p.Leu1459Met",
          "transcript": "XM_047438659.1",
          "protein_id": "XP_047294615.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.4360C>A",
          "hgvs_p": "p.Leu1454Met",
          "transcript": "XM_047438660.1",
          "protein_id": "XP_047294616.1",
          "transcript_support_level": null,
          "aa_start": 1454,
          "aa_end": null,
          "aa_length": 1476,
          "cds_start": 4360,
          "cds_end": null,
          "cds_length": 4431,
          "cdna_start": 4435,
          "cdna_end": null,
          "cdna_length": 4586,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
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      "bayesdelnoaf_score": -0.47,
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      "acmg_classification": "Uncertain_significance",
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            "BP4_Moderate"
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          "verdict": "Uncertain_significance",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}