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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: 11-35219682-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35219682&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 35219682,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000428726.8",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1945+295T>C",
          "hgvs_p": null,
          "transcript": "NM_000610.4",
          "protein_id": "NP_000601.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 742,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2229,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5431,
          "mane_select": "ENST00000428726.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1945+295T>C",
          "hgvs_p": null,
          "transcript": "ENST00000428726.8",
          "protein_id": "ENSP00000398632.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 742,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2229,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5431,
          "mane_select": "NM_000610.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1816+295T>C",
          "hgvs_p": null,
          "transcript": "ENST00000415148.6",
          "protein_id": "ENSP00000389830.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2369,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1198+295T>C",
          "hgvs_p": null,
          "transcript": "ENST00000433892.6",
          "protein_id": "ENSP00000392331.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1006+295T>C",
          "hgvs_p": null,
          "transcript": "ENST00000434472.6",
          "protein_id": "ENSP00000404447.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1634,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.802+295T>C",
          "hgvs_p": null,
          "transcript": "ENST00000263398.11",
          "protein_id": "ENSP00000263398.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4288,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.739+295T>C",
          "hgvs_p": null,
          "transcript": "ENST00000352818.8",
          "protein_id": "ENSP00000309732.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1023,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.799+295T>C",
          "hgvs_p": null,
          "transcript": "ENST00000442151.6",
          "protein_id": "ENSP00000398099.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1825,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.234-2023T>C",
          "hgvs_p": null,
          "transcript": "ENST00000278386.10",
          "protein_id": "ENSP00000278386.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 139,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 420,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 484,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "n.*425+295T>C",
          "hgvs_p": null,
          "transcript": "ENST00000425428.6",
          "protein_id": "ENSP00000395953.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1768,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1948+295T>C",
          "hgvs_p": null,
          "transcript": "NM_001440324.1",
          "protein_id": "NP_001427253.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 743,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2232,
          "cdna_start": null,
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          "cdna_length": 5434,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1942+295T>C",
          "hgvs_p": null,
          "transcript": "NM_001440325.1",
          "protein_id": "NP_001427254.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1855+295T>C",
          "hgvs_p": null,
          "transcript": "NM_001440326.1",
          "protein_id": "NP_001427255.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "feature": null
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        {
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          ],
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          "intron_rank": 15,
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          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1819+295T>C",
          "hgvs_p": null,
          "transcript": "NM_001440327.1",
          "protein_id": "NP_001427256.1",
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          "cds_start": -4,
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          "cdna_start": null,
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        {
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          "strand": true,
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          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1816+295T>C",
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        {
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          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1816+295T>C",
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          "transcript": "NM_001440328.1",
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        {
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          "exon_count": 17,
          "intron_rank": 15,
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          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1807+295T>C",
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          "transcript": "NM_001440329.1",
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        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1792+295T>C",
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          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1750+295T>C",
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          "gene_symbol": "CD44",
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          "hgvs_c": "c.1726+295T>C",
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          "transcript": "NM_001440332.1",
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          "cdna_start": null,
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
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          ],
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          "exon_count": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1726+295T>C",
          "hgvs_p": null,
          "transcript": "NM_001440333.1",
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}