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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: 4-103109041-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=103109041&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 103109041,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001813.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7773C>T",
          "hgvs_p": "p.Thr2591Thr",
          "transcript": "NM_001813.3",
          "protein_id": "NP_001804.2",
          "transcript_support_level": null,
          "aa_start": 2591,
          "aa_end": null,
          "aa_length": 2701,
          "cds_start": 7773,
          "cds_end": null,
          "cds_length": 8106,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000265148.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001813.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7773C>T",
          "hgvs_p": "p.Thr2591Thr",
          "transcript": "ENST00000265148.9",
          "protein_id": "ENSP00000265148.3",
          "transcript_support_level": 2,
          "aa_start": 2591,
          "aa_end": null,
          "aa_length": 2701,
          "cds_start": 7773,
          "cds_end": null,
          "cds_length": 8106,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001813.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000265148.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7410C>T",
          "hgvs_p": "p.Thr2470Thr",
          "transcript": "ENST00000380026.8",
          "protein_id": "ENSP00000369365.3",
          "transcript_support_level": 1,
          "aa_start": 2470,
          "aa_end": null,
          "aa_length": 2580,
          "cds_start": 7410,
          "cds_end": null,
          "cds_length": 7743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380026.8"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7776C>T",
          "hgvs_p": "p.Thr2592Thr",
          "transcript": "ENST00000933323.1",
          "protein_id": "ENSP00000603382.1",
          "transcript_support_level": null,
          "aa_start": 2592,
          "aa_end": null,
          "aa_length": 2702,
          "cds_start": 7776,
          "cds_end": null,
          "cds_length": 8109,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000933323.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7698C>T",
          "hgvs_p": "p.Thr2566Thr",
          "transcript": "ENST00000933319.1",
          "protein_id": "ENSP00000603378.1",
          "transcript_support_level": null,
          "aa_start": 2566,
          "aa_end": null,
          "aa_length": 2676,
          "cds_start": 7698,
          "cds_end": null,
          "cds_length": 8031,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000933319.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7485C>T",
          "hgvs_p": "p.Thr2495Thr",
          "transcript": "ENST00000933321.1",
          "protein_id": "ENSP00000603380.1",
          "transcript_support_level": null,
          "aa_start": 2495,
          "aa_end": null,
          "aa_length": 2605,
          "cds_start": 7485,
          "cds_end": null,
          "cds_length": 7818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000933321.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7482C>T",
          "hgvs_p": "p.Thr2494Thr",
          "transcript": "ENST00000933320.1",
          "protein_id": "ENSP00000603379.1",
          "transcript_support_level": null,
          "aa_start": 2494,
          "aa_end": null,
          "aa_length": 2604,
          "cds_start": 7482,
          "cds_end": null,
          "cds_length": 7815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000933320.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7410C>T",
          "hgvs_p": "p.Thr2470Thr",
          "transcript": "NM_001286734.2",
          "protein_id": "NP_001273663.1",
          "transcript_support_level": null,
          "aa_start": 2470,
          "aa_end": null,
          "aa_length": 2580,
          "cds_start": 7410,
          "cds_end": null,
          "cds_length": 7743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286734.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7407C>T",
          "hgvs_p": "p.Thr2469Thr",
          "transcript": "ENST00000933322.1",
          "protein_id": "ENSP00000603381.1",
          "transcript_support_level": null,
          "aa_start": 2469,
          "aa_end": null,
          "aa_length": 2579,
          "cds_start": 7407,
          "cds_end": null,
          "cds_length": 7740,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000933322.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7248C>T",
          "hgvs_p": "p.Thr2416Thr",
          "transcript": "ENST00000933324.1",
          "protein_id": "ENSP00000603383.1",
          "transcript_support_level": null,
          "aa_start": 2416,
          "aa_end": null,
          "aa_length": 2526,
          "cds_start": 7248,
          "cds_end": null,
          "cds_length": 7581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000933324.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7083C>T",
          "hgvs_p": "p.Thr2361Thr",
          "transcript": "ENST00000960876.1",
          "protein_id": "ENSP00000630935.1",
          "transcript_support_level": null,
          "aa_start": 2361,
          "aa_end": null,
          "aa_length": 2471,
          "cds_start": 7083,
          "cds_end": null,
          "cds_length": 7416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960876.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7698C>T",
          "hgvs_p": "p.Thr2566Thr",
          "transcript": "XM_011531544.3",
          "protein_id": "XP_011529846.1",
          "transcript_support_level": null,
          "aa_start": 2566,
          "aa_end": null,
          "aa_length": 2676,
          "cds_start": 7698,
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          "cds_length": 8031,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_011531544.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7614C>T",
          "hgvs_p": "p.Thr2538Thr",
          "transcript": "XM_011531545.3",
          "protein_id": "XP_011529847.1",
          "transcript_support_level": null,
          "aa_start": 2538,
          "aa_end": null,
          "aa_length": 2648,
          "cds_start": 7614,
          "cds_end": null,
          "cds_length": 7947,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011531545.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7569C>T",
          "hgvs_p": "p.Thr2523Thr",
          "transcript": "XM_011531546.4",
          "protein_id": "XP_011529848.1",
          "transcript_support_level": null,
          "aa_start": 2523,
          "aa_end": null,
          "aa_length": 2633,
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          "cds_length": 7902,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7539C>T",
          "hgvs_p": "p.Thr2513Thr",
          "transcript": "XM_047449533.1",
          "protein_id": "XP_047305489.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 2623,
          "cds_start": 7539,
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          "cds_length": 7872,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449533.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7494C>T",
          "hgvs_p": "p.Thr2498Thr",
          "transcript": "XM_047449534.1",
          "protein_id": "XP_047305490.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 2608,
          "cds_start": 7494,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_047449534.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7485C>T",
          "hgvs_p": "p.Thr2495Thr",
          "transcript": "XM_011531547.3",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
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          "intron_rank": null,
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          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7482C>T",
          "hgvs_p": "p.Thr2494Thr",
          "transcript": "XM_011531548.3",
          "protein_id": "XP_011529850.1",
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          "biotype": "protein_coding",
          "feature": "XM_011531548.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
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          "intron_rank": null,
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          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7410C>T",
          "hgvs_p": "p.Thr2470Thr",
          "transcript": "XM_047449535.1",
          "protein_id": "XP_047305491.1",
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          "cds_start": 7410,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449535.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CENPE",
          "gene_hgnc_id": 1856,
          "hgvs_c": "c.7407C>T",
          "hgvs_p": "p.Thr2469Thr",
          "transcript": "XM_047449536.1",
          "protein_id": "XP_047305492.1",
          "transcript_support_level": null,
          "aa_start": 2469,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}