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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: 11-7668484-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=7668484&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 7668484,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_016229.5",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "NM_016229.5",
          "protein_id": "NP_057313.2",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000299498.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016229.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000299498.11",
          "protein_id": "ENSP00000299498.6",
          "transcript_support_level": 1,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_016229.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000299498.11"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000524790.5",
          "protein_id": "ENSP00000435916.1",
          "transcript_support_level": 1,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 237,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 714,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000524790.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.532G>C",
          "hgvs_p": "p.Gly178Arg",
          "transcript": "ENST00000917897.1",
          "protein_id": "ENSP00000587956.1",
          "transcript_support_level": null,
          "aa_start": 178,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 532,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917897.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000872671.1",
          "protein_id": "ENSP00000542730.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 296,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872671.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.484G>C",
          "hgvs_p": "p.Gly162Arg",
          "transcript": "ENST00000872675.1",
          "protein_id": "ENSP00000542734.1",
          "transcript_support_level": null,
          "aa_start": 162,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 484,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872675.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.484G>C",
          "hgvs_p": "p.Gly162Arg",
          "transcript": "ENST00000954656.1",
          "protein_id": "ENSP00000624715.1",
          "transcript_support_level": null,
          "aa_start": 162,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 484,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954656.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "NM_001302826.2",
          "protein_id": "NP_001289755.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001302826.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000533558.5",
          "protein_id": "ENSP00000437041.1",
          "transcript_support_level": 2,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000533558.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000872666.1",
          "protein_id": "ENSP00000542725.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872666.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000872667.1",
          "protein_id": "ENSP00000542726.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872667.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000872668.1",
          "protein_id": "ENSP00000542727.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872668.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000872670.1",
          "protein_id": "ENSP00000542729.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872670.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000872672.1",
          "protein_id": "ENSP00000542731.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872672.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000872674.1",
          "protein_id": "ENSP00000542733.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872674.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "ENST00000954657.1",
          "protein_id": "ENSP00000624716.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954657.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.355G>C",
          "hgvs_p": "p.Gly119Arg",
          "transcript": "ENST00000917893.1",
          "protein_id": "ENSP00000587952.1",
          "transcript_support_level": null,
          "aa_start": 119,
          "aa_end": null,
          "aa_length": 239,
          "cds_start": 355,
          "cds_end": null,
          "cds_length": 720,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917893.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.466G>C",
          "hgvs_p": "p.Gly156Arg",
          "transcript": "NM_001302827.1",
          "protein_id": "NP_001289756.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 230,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 693,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001302827.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.286G>C",
          "hgvs_p": "p.Gly96Arg",
          "transcript": "ENST00000872669.1",
          "protein_id": "ENSP00000542728.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 216,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 651,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872669.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYB5R2",
          "gene_hgnc_id": 24376,
          "hgvs_c": "c.286G>C",
          "hgvs_p": "p.Gly96Arg",
          "transcript": "ENST00000917895.1",
          "protein_id": "ENSP00000587954.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 216,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 651,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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}