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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: 5-850572-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=850572&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 850572,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001393492.1",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "NM_024786.3",
          "protein_id": "NP_079062.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": 31,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000283441.13",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_024786.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "ENST00000283441.13",
          "protein_id": "ENSP00000283441.8",
          "transcript_support_level": 1,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": 31,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_024786.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000283441.13"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "NM_001393492.1",
          "protein_id": "NP_001380421.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 467,
          "cds_start": 31,
          "cds_end": null,
          "cds_length": 1404,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001393492.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "ENST00000685990.1",
          "protein_id": "ENSP00000509570.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 153,
          "cds_start": 31,
          "cds_end": null,
          "cds_length": 464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685990.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "XM_024446209.2",
          "protein_id": "XP_024301977.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 510,
          "cds_start": 31,
          "cds_end": null,
          "cds_length": 1533,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024446209.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "XM_047417746.1",
          "protein_id": "XP_047273702.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 510,
          "cds_start": 31,
          "cds_end": null,
          "cds_length": 1533,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417746.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "XM_047417747.1",
          "protein_id": "XP_047273703.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 510,
          "cds_start": 31,
          "cds_end": null,
          "cds_length": 1533,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417747.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "XM_047417748.1",
          "protein_id": "XP_047273704.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": 31,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417748.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "XM_024446210.2",
          "protein_id": "XP_024301978.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 467,
          "cds_start": 31,
          "cds_end": null,
          "cds_length": 1404,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024446210.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "XM_047417749.1",
          "protein_id": "XP_047273705.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 31,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          ],
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "ZDHHC11",
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          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "XM_024446212.2",
          "protein_id": "XP_024301980.1",
          "transcript_support_level": null,
          "aa_start": 11,
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          "aa_length": 412,
          "cds_start": 31,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
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        {
          "aa_ref": "V",
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          "cdna_start": null,
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        {
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        {
          "aa_ref": "V",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ZDHHC11",
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        {
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        {
          "aa_ref": "V",
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        {
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          "gene_symbol": "ZDHHC11",
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        {
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          "gene_symbol": "ZDHHC11",
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZDHHC11",
          "gene_hgnc_id": 19158,
          "hgvs_c": "c.31G>C",
          "hgvs_p": "p.Val11Leu",
          "transcript": "XM_024446216.2",
          "protein_id": "XP_024301984.1",
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          "cdna_start": null,
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