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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: 22-37808082-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37808082&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 37808082,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001171690.2",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "NM_014291.4",
          "protein_id": "NP_055106.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000248924.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014291.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000248924.11",
          "protein_id": "ENSP00000248924.6",
          "transcript_support_level": 1,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014291.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000248924.11"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892369.1",
          "protein_id": "ENSP00000562428.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 499,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1500,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892369.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892367.1",
          "protein_id": "ENSP00000562426.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892367.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892362.1",
          "protein_id": "ENSP00000562421.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892362.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "NM_001171690.2",
          "protein_id": "NP_001165161.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001171690.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000323205.10",
          "protein_id": "ENSP00000371110.3",
          "transcript_support_level": 2,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000323205.10"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892361.1",
          "protein_id": "ENSP00000562420.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892361.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892368.1",
          "protein_id": "ENSP00000562427.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892368.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892366.1",
          "protein_id": "ENSP00000562425.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 437,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1314,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892366.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892359.1",
          "protein_id": "ENSP00000562418.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892359.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892360.1",
          "protein_id": "ENSP00000562419.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 115,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892360.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892370.1",
          "protein_id": "ENSP00000562429.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": 115,
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          "cds_length": 1299,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892370.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000945451.1",
          "protein_id": "ENSP00000615510.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
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          "cds_start": 115,
          "cds_end": null,
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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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        },
        {
          "aa_ref": "R",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892357.1",
          "protein_id": "ENSP00000562416.1",
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000892357.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892358.1",
          "protein_id": "ENSP00000562417.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 418,
          "cds_start": 115,
          "cds_end": null,
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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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        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892363.1",
          "protein_id": "ENSP00000562422.1",
          "transcript_support_level": null,
          "aa_start": 39,
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          "aa_length": 418,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
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          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000912828.1",
          "protein_id": "ENSP00000582887.1",
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          "biotype": "protein_coding",
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        },
        {
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          "gene_symbol": "GCAT",
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          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000892365.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCAT",
          "gene_hgnc_id": 4188,
          "hgvs_c": "c.115C>G",
          "hgvs_p": "p.Arg39Gly",
          "transcript": "ENST00000945452.1",
          "protein_id": "ENSP00000615511.1",
          "transcript_support_level": null,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 386,
          "cds_start": 115,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000945452.1"
        },
        {
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}