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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: 10-103089714-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=103089714&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 103089714,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_001351169.2",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1644T>C",
          "hgvs_p": "p.His548His",
          "transcript": "NM_001351169.2",
          "protein_id": "NP_001338098.1",
          "transcript_support_level": null,
          "aa_start": 548,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1644,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": 1849,
          "cdna_end": null,
          "cdna_length": 3525,
          "mane_select": "ENST00000404739.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1644T>C",
          "hgvs_p": "p.His548His",
          "transcript": "ENST00000404739.8",
          "protein_id": "ENSP00000383960.3",
          "transcript_support_level": 1,
          "aa_start": 548,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1644,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": 1849,
          "cdna_end": null,
          "cdna_length": 3525,
          "mane_select": "NM_001351169.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1644T>C",
          "hgvs_p": "p.His548His",
          "transcript": "ENST00000343289.9",
          "protein_id": "ENSP00000339479.5",
          "transcript_support_level": 1,
          "aa_start": 548,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1644,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": 1739,
          "cdna_end": null,
          "cdna_length": 3435,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNNM2",
          "gene_hgnc_id": 103,
          "hgvs_c": "c.*12534A>G",
          "hgvs_p": null,
          "transcript": "NM_017649.5",
          "protein_id": "NP_060119.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 875,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2628,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 15857,
          "mane_select": "ENST00000369878.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNNM2",
          "gene_hgnc_id": 103,
          "hgvs_c": "c.*12534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000369878.9",
          "protein_id": "ENSP00000358894.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 875,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2628,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 15857,
          "mane_select": "NM_017649.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1668T>C",
          "hgvs_p": "p.His556His",
          "transcript": "NM_001351170.2",
          "protein_id": "NP_001338099.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1668,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 1729,
          "cdna_end": null,
          "cdna_length": 3405,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1668T>C",
          "hgvs_p": "p.His556His",
          "transcript": "NM_001351171.2",
          "protein_id": "NP_001338100.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1668,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 1827,
          "cdna_end": null,
          "cdna_length": 3503,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1668T>C",
          "hgvs_p": "p.His556His",
          "transcript": "NM_001351172.2",
          "protein_id": "NP_001338101.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1668,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 1873,
          "cdna_end": null,
          "cdna_length": 3549,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1668T>C",
          "hgvs_p": "p.His556His",
          "transcript": "NM_001351173.2",
          "protein_id": "NP_001338102.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1668,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 2264,
          "cdna_end": null,
          "cdna_length": 3940,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1668T>C",
          "hgvs_p": "p.His556His",
          "transcript": "ENST00000674860.1",
          "protein_id": "ENSP00000502816.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1668,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 2020,
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          "cdna_length": 3614,
          "mane_select": null,
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        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1644T>C",
          "hgvs_p": "p.His548His",
          "transcript": "NM_001134373.3",
          "protein_id": "NP_001127845.1",
          "transcript_support_level": null,
          "aa_start": 548,
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          "aa_length": 561,
          "cds_start": 1644,
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          "cdna_start": 1705,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1644T>C",
          "hgvs_p": "p.His548His",
          "transcript": "NM_012229.5",
          "protein_id": "NP_036361.1",
          "transcript_support_level": null,
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          "cds_start": 1644,
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          "cdna_start": 1803,
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          "mane_select": null,
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        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1644T>C",
          "hgvs_p": "p.His548His",
          "transcript": "ENST00000674696.1",
          "protein_id": "ENSP00000502679.1",
          "transcript_support_level": null,
          "aa_start": 548,
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          "cds_start": 1644,
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          "cdna_start": 2285,
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          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1644T>C",
          "hgvs_p": "p.His548His",
          "transcript": "ENST00000675326.1",
          "protein_id": "ENSP00000502205.1",
          "transcript_support_level": null,
          "aa_start": 548,
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          "aa_length": 561,
          "cds_start": 1644,
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          "cdna_start": 1921,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1644T>C",
          "hgvs_p": "p.His548His",
          "transcript": "ENST00000676428.1",
          "protein_id": "ENSP00000501689.1",
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          "cds_start": 1644,
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          "cdna_start": 1882,
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          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1644T>C",
          "hgvs_p": "p.His548His",
          "transcript": "ENST00000676449.1",
          "protein_id": "ENSP00000502801.1",
          "transcript_support_level": null,
          "aa_start": 548,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1644,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": 2120,
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          "cdna_length": 3670,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1557T>C",
          "hgvs_p": "p.His519His",
          "transcript": "NM_001351174.1",
          "protein_id": "NP_001338103.1",
          "transcript_support_level": null,
          "aa_start": 519,
          "aa_end": null,
          "aa_length": 532,
          "cds_start": 1557,
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          "cds_length": 1599,
          "cdna_start": 2074,
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          "cdna_length": 3771,
          "mane_select": null,
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        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
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          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
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          "intron_rank": null,
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          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1557T>C",
          "hgvs_p": "p.His519His",
          "transcript": "ENST00000675985.1",
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          "cdna_start": 1880,
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        },
        {
          "aa_ref": "H",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1551T>C",
          "hgvs_p": "p.His517His",
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          "protein_id": "NP_001338104.1",
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          "cds_length": 1593,
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          "feature": null
        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NT5C2",
          "gene_hgnc_id": 8022,
          "hgvs_c": "c.1071T>C",
          "hgvs_p": "p.His357His",
          "transcript": "NM_001351176.2",
          "protein_id": "NP_001338105.1",
          "transcript_support_level": null,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": 1071,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": 1692,
          "cdna_end": null,
          "cdna_length": 3368,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "spliceai_max_prediction": "Benign",
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      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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      "clinvar_disease": "Hereditary spastic paraplegia 45",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Hereditary spastic paraplegia 45",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  ],
  "message": null
}