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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: 4-186285711-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186285711&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 186285711,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_000128.4",
      "consequences": [
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "NM_000128.4",
          "protein_id": "NP_000119.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000403665.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000128.4"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "ENST00000403665.7",
          "protein_id": "ENSP00000384957.2",
          "transcript_support_level": 1,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000128.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000403665.7"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "ENST00000886358.1",
          "protein_id": "ENSP00000556417.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886358.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "ENST00000886339.1",
          "protein_id": "ENSP00000556398.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886339.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "ENST00000886343.1",
          "protein_id": "ENSP00000556402.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886343.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "ENST00000886347.1",
          "protein_id": "ENSP00000556406.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886347.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "ENST00000886351.1",
          "protein_id": "ENSP00000556410.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886351.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "ENST00000886352.1",
          "protein_id": "ENSP00000556411.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886352.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "ENST00000886355.1",
          "protein_id": "ENSP00000556414.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886355.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "ENST00000886360.1",
          "protein_id": "ENSP00000556419.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886360.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1339T>C",
          "hgvs_p": "p.Phe447Leu",
          "transcript": "ENST00000886359.1",
          "protein_id": "ENSP00000556418.1",
          "transcript_support_level": null,
          "aa_start": 447,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 1339,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886359.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1330T>C",
          "hgvs_p": "p.Phe444Leu",
          "transcript": "NM_001440590.1",
          "protein_id": "NP_001427519.1",
          "transcript_support_level": null,
          "aa_start": 444,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1330,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440590.1"
        },
        {
          "aa_ref": "F",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1330T>C",
          "hgvs_p": "p.Phe444Leu",
          "transcript": "ENST00000886342.1",
          "protein_id": "ENSP00000556401.1",
          "transcript_support_level": null,
          "aa_start": 444,
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          "aa_length": 609,
          "cds_start": 1330,
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          "cds_length": 1830,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886342.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1378T>C",
          "hgvs_p": "p.Phe460Leu",
          "transcript": "NM_001440593.1",
          "protein_id": "NP_001427522.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 12,
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1330T>C",
          "hgvs_p": "p.Phe444Leu",
          "transcript": "NM_001440596.1",
          "protein_id": "NP_001427525.1",
          "transcript_support_level": null,
          "aa_start": 444,
          "aa_end": null,
          "aa_length": 577,
          "cds_start": 1330,
          "cds_end": null,
          "cds_length": 1734,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001440596.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1108T>C",
          "hgvs_p": "p.Phe370Leu",
          "transcript": "ENST00000886357.1",
          "protein_id": "ENSP00000556416.1",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 575,
          "cds_start": 1108,
          "cds_end": null,
          "cds_length": 1728,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000886357.1"
        },
        {
          "aa_ref": "F",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1108T>C",
          "hgvs_p": "p.Phe370Leu",
          "transcript": "NM_001440605.1",
          "protein_id": "NP_001427534.1",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1108,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "F",
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          ],
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1108T>C",
          "hgvs_p": "p.Phe370Leu",
          "transcript": "ENST00000886340.1",
          "protein_id": "ENSP00000556399.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "F",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
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          "hgvs_p": "p.Phe370Leu",
          "transcript": "ENST00000886341.1",
          "protein_id": "ENSP00000556400.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000886341.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1108T>C",
          "hgvs_p": "p.Phe370Leu",
          "transcript": "ENST00000886348.1",
          "protein_id": "ENSP00000556407.1",
          "transcript_support_level": null,
          "aa_start": 370,
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          "aa_length": 535,
          "cds_start": 1108,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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