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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: 10-114436354-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114436354&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 114436354,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_002313.7",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2243T>C",
          "hgvs_p": "p.Val748Ala",
          "transcript": "NM_002313.7",
          "protein_id": "NP_002304.3",
          "transcript_support_level": null,
          "aa_start": 748,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 2243,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 2318,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "ENST00000533213.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2243T>C",
          "hgvs_p": "p.Val748Ala",
          "transcript": "ENST00000533213.7",
          "protein_id": "ENSP00000433629.3",
          "transcript_support_level": 5,
          "aa_start": 748,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 2243,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 2318,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "NM_002313.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2411T>C",
          "hgvs_p": "p.Val804Ala",
          "transcript": "ENST00000649363.1",
          "protein_id": "ENSP00000497150.1",
          "transcript_support_level": null,
          "aa_start": 804,
          "aa_end": null,
          "aa_length": 834,
          "cds_start": 2411,
          "cds_end": null,
          "cds_length": 2505,
          "cdna_start": 2494,
          "cdna_end": null,
          "cdna_length": 2670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2153T>C",
          "hgvs_p": "p.Val718Ala",
          "transcript": "NM_001322882.2",
          "protein_id": "NP_001309811.1",
          "transcript_support_level": null,
          "aa_start": 718,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 2153,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 2803,
          "cdna_end": null,
          "cdna_length": 8047,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2153T>C",
          "hgvs_p": "p.Val718Ala",
          "transcript": "ENST00000369256.6",
          "protein_id": "ENSP00000358260.3",
          "transcript_support_level": 5,
          "aa_start": 718,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 2153,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 2803,
          "cdna_end": null,
          "cdna_length": 3203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2063T>C",
          "hgvs_p": "p.Val688Ala",
          "transcript": "NM_001003407.2",
          "protein_id": "NP_001003407.1",
          "transcript_support_level": null,
          "aa_start": 688,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 2063,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 2153,
          "cdna_end": null,
          "cdna_length": 7395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2063T>C",
          "hgvs_p": "p.Val688Ala",
          "transcript": "ENST00000392955.8",
          "protein_id": "ENSP00000376682.4",
          "transcript_support_level": 5,
          "aa_start": 688,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 2063,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 2167,
          "cdna_end": null,
          "cdna_length": 7411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1958T>C",
          "hgvs_p": "p.Val653Ala",
          "transcript": "NM_001322883.2",
          "protein_id": "NP_001309812.1",
          "transcript_support_level": null,
          "aa_start": 653,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1958,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": 2048,
          "cdna_end": null,
          "cdna_length": 7290,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1913T>C",
          "hgvs_p": "p.Val638Ala",
          "transcript": "NM_001322884.3",
          "protein_id": "NP_001309813.1",
          "transcript_support_level": null,
          "aa_start": 638,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1913,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 2144,
          "cdna_end": null,
          "cdna_length": 7386,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1907T>C",
          "hgvs_p": "p.Val636Ala",
          "transcript": "NM_001322885.3",
          "protein_id": "NP_001309814.1",
          "transcript_support_level": null,
          "aa_start": 636,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 1907,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": 2138,
          "cdna_end": null,
          "cdna_length": 7380,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1874T>C",
          "hgvs_p": "p.Val625Ala",
          "transcript": "NM_001352440.1",
          "protein_id": "NP_001339369.1",
          "transcript_support_level": null,
          "aa_start": 625,
          "aa_end": null,
          "aa_length": 655,
          "cds_start": 1874,
          "cds_end": null,
          "cds_length": 1968,
          "cdna_start": 2354,
          "cdna_end": null,
          "cdna_length": 7598,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1874T>C",
          "hgvs_p": "p.Val625Ala",
          "transcript": "ENST00000651023.2",
          "protein_id": "ENSP00000499023.2",
          "transcript_support_level": null,
          "aa_start": 625,
          "aa_end": null,
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          "cds_start": 1874,
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          "cds_length": 1968,
          "cdna_start": 2049,
          "cdna_end": null,
          "cdna_length": 2944,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1871T>C",
          "hgvs_p": "p.Val624Ala",
          "transcript": "NM_001322886.3",
          "protein_id": "NP_001309815.1",
          "transcript_support_level": null,
          "aa_start": 624,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 1871,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": 2102,
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          "cdna_length": 7344,
          "mane_select": null,
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          "biotype": null,
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1817T>C",
          "hgvs_p": "p.Val606Ala",
          "transcript": "NM_001322887.2",
          "protein_id": "NP_001309816.1",
          "transcript_support_level": null,
          "aa_start": 606,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": 1817,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": 1907,
          "cdna_end": null,
          "cdna_length": 7149,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1769T>C",
          "hgvs_p": "p.Val590Ala",
          "transcript": "NM_001352441.1",
          "protein_id": "NP_001339370.1",
          "transcript_support_level": null,
          "aa_start": 590,
          "aa_end": null,
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          "cds_length": 1863,
          "cdna_start": 2249,
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          "cdna_length": 7493,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1769T>C",
          "hgvs_p": "p.Val590Ala",
          "transcript": "ENST00000707119.1",
          "protein_id": "ENSP00000516747.1",
          "transcript_support_level": null,
          "aa_start": 590,
          "aa_end": null,
          "aa_length": 620,
          "cds_start": 1769,
          "cds_end": null,
          "cds_length": 1863,
          "cdna_start": 1896,
          "cdna_end": null,
          "cdna_length": 7125,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1682T>C",
          "hgvs_p": "p.Val561Ala",
          "transcript": "NM_001352442.2",
          "protein_id": "NP_001339371.1",
          "transcript_support_level": null,
          "aa_start": 561,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 1682,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": 1974,
          "cdna_end": null,
          "cdna_length": 7216,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1301T>C",
          "hgvs_p": "p.Val434Ala",
          "transcript": "NM_001352443.2",
          "protein_id": "NP_001339372.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 1301,
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          "cds_length": 1395,
          "cdna_start": 1609,
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          "cdna_length": 6851,
          "mane_select": null,
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        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1274T>C",
          "hgvs_p": "p.Val425Ala",
          "transcript": "NM_001322888.2",
          "protein_id": "NP_001309817.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 455,
          "cds_start": 1274,
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          "cdna_start": 1582,
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          "cdna_length": 6824,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1274T>C",
          "hgvs_p": "p.Val425Ala",
          "transcript": "NM_006720.4",
          "protein_id": "NP_006711.3",
          "transcript_support_level": null,
          "aa_start": 425,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 1274,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": 1582,
          "cdna_end": null,
          "cdna_length": 6824,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1274T>C",
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