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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: X-19659653-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=19659653&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 19659653,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000397821.8",
      "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": 18,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.727-14178T>C",
          "hgvs_p": null,
          "transcript": "NM_031892.3",
          "protein_id": "NP_114098.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 665,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1998,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4728,
          "mane_select": "ENST00000397821.8",
          "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": 18,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.727-14178T>C",
          "hgvs_p": null,
          "transcript": "ENST00000397821.8",
          "protein_id": "ENSP00000380921.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 665,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1998,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4728,
          "mane_select": "NM_031892.3",
          "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": 17,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.616-14178T>C",
          "hgvs_p": null,
          "transcript": "ENST00000379698.8",
          "protein_id": "ENSP00000369020.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 628,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1887,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2678,
          "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": 20,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.859-14178T>C",
          "hgvs_p": null,
          "transcript": "NM_001410756.1",
          "protein_id": "NP_001397685.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 709,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2130,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4860,
          "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": 20,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.859-14178T>C",
          "hgvs_p": null,
          "transcript": "ENST00000379726.8",
          "protein_id": "ENSP00000369049.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 709,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2130,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4682,
          "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": 19,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.802-14178T>C",
          "hgvs_p": null,
          "transcript": "NM_001353891.2",
          "protein_id": "NP_001340820.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 690,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2073,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4803,
          "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": 19,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.802-14178T>C",
          "hgvs_p": null,
          "transcript": "ENST00000699668.1",
          "protein_id": "ENSP00000514511.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 690,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2073,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4751,
          "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": 19,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.859-14178T>C",
          "hgvs_p": null,
          "transcript": "NM_001410757.1",
          "protein_id": "NP_001397686.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4731,
          "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": 19,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.859-14178T>C",
          "hgvs_p": null,
          "transcript": "ENST00000699670.1",
          "protein_id": "ENSP00000514513.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4555,
          "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": 18,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.802-14178T>C",
          "hgvs_p": null,
          "transcript": "ENST00000699679.1",
          "protein_id": "ENSP00000514522.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 658,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1977,
          "cdna_start": null,
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          "cdna_length": 3132,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.682-14178T>C",
          "hgvs_p": null,
          "transcript": "ENST00000699725.1",
          "protein_id": "ENSP00000514547.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4420,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.802-14178T>C",
          "hgvs_p": null,
          "transcript": "NM_001353892.2",
          "protein_id": "NP_001340821.1",
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "canonical": false,
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          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 7,
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          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.802-14178T>C",
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          "protein_id": "ENSP00000514514.1",
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          "cds_start": -4,
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        {
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          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.625-14178T>C",
          "hgvs_p": null,
          "transcript": "NM_001353893.2",
          "protein_id": "NP_001340822.1",
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "SH3KBP1",
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          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.616-14178T>C",
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          "transcript": "NM_001024666.3",
          "protein_id": "NP_001019837.1",
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        {
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          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 5,
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          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.616-14178T>C",
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          "transcript": "ENST00000699723.1",
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          "cdna_start": null,
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        {
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          "intron_rank": 6,
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          "gene_hgnc_id": 13867,
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          "intron_rank": 6,
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          "gene_symbol": "SH3KBP1",
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        {
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          "hgvs_c": "c.682-14178T>C",
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          "transcript": "NM_001353895.2",
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          "cdna_length": 4352,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SH3KBP1",
          "gene_hgnc_id": 13867,
          "hgvs_c": "c.682-14178T>C",
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          "transcript": "ENST00000699720.1",
          "protein_id": "ENSP00000514710.1",
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