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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: 5-77484217-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=77484217&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 77484217,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000296679.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.167+5240T>C",
          "hgvs_p": null,
          "transcript": "NM_018268.4",
          "protein_id": "NP_060738.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3678,
          "mane_select": "ENST00000296679.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.167+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000296679.9",
          "protein_id": "ENSP00000296679.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3678,
          "mane_select": "NM_018268.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.51+7953T>C",
          "hgvs_p": null,
          "transcript": "ENST00000507029.5",
          "protein_id": "ENSP00000424287.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 404,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1215,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1553,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.146+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000515253.5",
          "protein_id": "ENSP00000426499.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1507,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.167+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000514559.5",
          "protein_id": "ENSP00000426937.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 188,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 568,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 570,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.152+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000511036.5",
          "protein_id": "ENSP00000422510.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 178,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 538,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 805,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.158+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000509971.5",
          "protein_id": "ENSP00000422922.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 149,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 452,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 543,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.143+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000504895.5",
          "protein_id": "ENSP00000426141.1",
          "transcript_support_level": 4,
          "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": 516,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.10+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000507654.5",
          "protein_id": "ENSP00000427291.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 139,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 562,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "c.73+5334T>C",
          "hgvs_p": null,
          "transcript": "ENST00000511791.1",
          "protein_id": "ENSP00000423540.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 119,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 429,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.*94+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000503035.5",
          "protein_id": "ENSP00000421166.1",
          "transcript_support_level": 5,
          "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": 854,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.167+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000505129.5",
          "protein_id": "ENSP00000425249.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1042,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.167+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000506307.5",
          "protein_id": "ENSP00000424327.1",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 582,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.168-4028T>C",
          "hgvs_p": null,
          "transcript": "ENST00000506474.5",
          "protein_id": "ENSP00000425813.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 560,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.169+5240T>C",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.162+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000507452.5",
          "protein_id": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 680,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.167+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000509701.5",
          "protein_id": "ENSP00000427652.1",
          "transcript_support_level": 2,
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          "aa_length": null,
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          "cdna_length": 949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.278+5240T>C",
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          "transcript": "ENST00000509858.5",
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          "strand": false,
          "consequences": [
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          "intron_rank": 2,
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          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.161+5240T>C",
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          "transcript": "ENST00000509892.5",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 3,
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          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.397+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000512168.1",
          "protein_id": null,
          "transcript_support_level": 4,
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          "cdna_length": 549,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WDR41",
          "gene_hgnc_id": 25601,
          "hgvs_c": "n.167+5240T>C",
          "hgvs_p": null,
          "transcript": "ENST00000513417.5",
          "protein_id": "ENSP00000423462.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 577,
          "mane_select": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
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}