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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: 2-63404498-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63404498&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 63404498,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000272321.12",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.985G>A",
          "hgvs_p": "p.Val329Met",
          "transcript": "NM_015910.7",
          "protein_id": "NP_056994.3",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 985,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 1191,
          "cdna_end": null,
          "cdna_length": 4894,
          "mane_select": "ENST00000272321.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.985G>A",
          "hgvs_p": "p.Val329Met",
          "transcript": "ENST00000272321.12",
          "protein_id": "ENSP00000272321.7",
          "transcript_support_level": 1,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 985,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 1191,
          "cdna_end": null,
          "cdna_length": 4894,
          "mane_select": "NM_015910.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.985G>A",
          "hgvs_p": "p.Val329Met",
          "transcript": "ENST00000409562.7",
          "protein_id": "ENSP00000387222.3",
          "transcript_support_level": 1,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 985,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": 1232,
          "cdna_end": null,
          "cdna_length": 3544,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.508G>A",
          "hgvs_p": "p.Val170Met",
          "transcript": "ENST00000398544.7",
          "protein_id": "ENSP00000381552.3",
          "transcript_support_level": 1,
          "aa_start": 170,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 508,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": 632,
          "cdna_end": null,
          "cdna_length": 2063,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.409G>A",
          "hgvs_p": "p.Val137Met",
          "transcript": "ENST00000409120.5",
          "protein_id": "ENSP00000386769.1",
          "transcript_support_level": 1,
          "aa_start": 137,
          "aa_end": null,
          "aa_length": 554,
          "cds_start": 409,
          "cds_end": null,
          "cds_length": 1665,
          "cdna_start": 3960,
          "cdna_end": null,
          "cdna_length": 5408,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "n.1232G>A",
          "hgvs_p": null,
          "transcript": "ENST00000409835.5",
          "protein_id": null,
          "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": 2277,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "n.687G>A",
          "hgvs_p": null,
          "transcript": "ENST00000493315.1",
          "protein_id": null,
          "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": 1476,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.913G>A",
          "hgvs_p": "p.Val305Met",
          "transcript": "NM_001354044.2",
          "protein_id": "NP_001340973.1",
          "transcript_support_level": null,
          "aa_start": 305,
          "aa_end": null,
          "aa_length": 722,
          "cds_start": 913,
          "cds_end": null,
          "cds_length": 2169,
          "cdna_start": 1443,
          "cdna_end": null,
          "cdna_length": 5146,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.985G>A",
          "hgvs_p": "p.Val329Met",
          "transcript": "NM_001354045.2",
          "protein_id": "NP_001340974.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": 985,
          "cds_end": null,
          "cds_length": 1950,
          "cdna_start": 1191,
          "cdna_end": null,
          "cdna_length": 2337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.508G>A",
          "hgvs_p": "p.Val170Met",
          "transcript": "NM_001042692.3",
          "protein_id": "NP_001036157.1",
          "transcript_support_level": null,
          "aa_start": 170,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 508,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": 632,
          "cdna_end": null,
          "cdna_length": 4335,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.409G>A",
          "hgvs_p": "p.Val137Met",
          "transcript": "ENST00000409199.5",
          "protein_id": "ENSP00000386592.1",
          "transcript_support_level": 2,
          "aa_start": 137,
          "aa_end": null,
          "aa_length": 554,
          "cds_start": 409,
          "cds_end": null,
          "cds_length": 1665,
          "cdna_start": 606,
          "cdna_end": null,
          "cdna_length": 2466,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.985G>A",
          "hgvs_p": "p.Val329Met",
          "transcript": "XM_005264348.5",
          "protein_id": "XP_005264405.1",
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          "mane_select": null,
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        {
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          ],
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "WDPCP",
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          "hgvs_p": "p.Val305Met",
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        {
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          "intron_rank": null,
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          "gene_symbol": "WDPCP",
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          "hgvs_c": "c.913G>A",
          "hgvs_p": "p.Val305Met",
          "transcript": "XM_047444626.1",
          "protein_id": "XP_047300582.1",
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          "mane_select": null,
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        {
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        {
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "WDPCP",
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          "hgvs_c": "c.913G>A",
          "hgvs_p": "p.Val305Met",
          "transcript": "XM_047444628.1",
          "protein_id": "XP_047300584.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "WDPCP",
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          "hgvs_c": "c.913G>A",
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        {
          "aa_ref": "V",
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        {
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          "strand": false,
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          ],
          "exon_rank": 12,
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          "intron_rank": null,
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          "gene_symbol": "WDPCP",
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        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
          "hgvs_c": "c.985G>A",
          "hgvs_p": "p.Val329Met",
          "transcript": "XM_011532884.4",
          "protein_id": "XP_011531186.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 652,
          "cds_start": 985,
          "cds_end": null,
          "cds_length": 1959,
          "cdna_start": 1191,
          "cdna_end": null,
          "cdna_length": 11693,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDPCP",
          "gene_hgnc_id": 28027,
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.05,
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      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BS1",
      "acmg_by_gene": [
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      "clinvar_disease": "Bardet-Biedl syndrome,Bardet-Biedl syndrome 15,not provided",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:2 LB:1",
      "phenotype_combined": "Bardet-Biedl syndrome|not provided|Bardet-Biedl syndrome 15",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
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  "message": null
}