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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: Y-13303235-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=Y&pos=13303235&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "Y",
      "pos": 13303235,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000545955.6",
      "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": 30,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3566-244T>A",
          "hgvs_p": null,
          "transcript": "NM_001258249.2",
          "protein_id": "NP_001245178.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6174,
          "mane_select": "ENST00000545955.6",
          "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": 30,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3566-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000545955.6",
          "protein_id": "ENSP00000442047.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6174,
          "mane_select": "NM_001258249.2",
          "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": 30,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3500-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000382896.9",
          "protein_id": "ENSP00000372352.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1422,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5239,
          "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": 29,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3431-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000617789.5",
          "protein_id": "ENSP00000483735.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1399,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4200,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4200,
          "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": 29,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3401-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000540140.6",
          "protein_id": "ENSP00000441943.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1389,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4170,
          "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": 28,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3335-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000612274.5",
          "protein_id": "ENSP00000485013.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1367,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4104,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4104,
          "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": 29,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3323-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000538878.6",
          "protein_id": "ENSP00000445274.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1363,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4092,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4092,
          "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": 28,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3275-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000331397.8",
          "protein_id": "ENSP00000328939.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1347,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4044,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6529,
          "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": 28,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3410-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000537580.6",
          "protein_id": "ENSP00000439922.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1335,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4008,
          "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": 24,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3026-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000618474.5",
          "protein_id": "ENSP00000484698.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1264,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3795,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3795,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3275-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000362096.8",
          "protein_id": "ENSP00000355420.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1240,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3723,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4990,
          "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": 28,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3038-244T>A",
          "hgvs_p": null,
          "transcript": "ENST00000624098.3",
          "protein_id": "ENSP00000485539.2",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 1211,
          "cds_start": -4,
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          "cdna_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_count": 29,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3410-244T>A",
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          "transcript": "NM_001400170.1",
          "protein_id": "NP_001387099.1",
          "transcript_support_level": null,
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          "aa_length": 1530,
          "cds_start": -4,
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          "cds_length": 4593,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "intron_rank": 23,
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          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3365-244T>A",
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          "transcript": "NM_001400171.1",
          "protein_id": "NP_001387100.1",
          "transcript_support_level": null,
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          "aa_length": 1515,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3323-244T>A",
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        {
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          "intron_rank": 22,
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          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3275-244T>A",
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          "transcript": "NM_001400173.1",
          "protein_id": "NP_001387102.1",
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          "cds_start": -4,
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          "canonical": false,
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          "exon_count": 30,
          "intron_rank": 24,
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          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3500-244T>A",
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          "transcript": "NM_001400175.1",
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 30,
          "intron_rank": 24,
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          "gene_symbol": "UTY",
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          "hgvs_c": "c.3500-244T>A",
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          "gene_symbol": "UTY",
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          "gene_symbol": "UTY",
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          "hgvs_c": "c.3410-244T>A",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
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          ],
          "exon_rank": null,
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          "exon_count": 29,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "UTY",
          "gene_hgnc_id": 12638,
          "hgvs_c": "c.3410-244T>A",
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          "transcript": "ENST00000682913.1",
          "protein_id": "ENSP00000507736.1",
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