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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: 3-49032715-G-GC (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49032715&ref=G&alt=GC&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 49032715,
      "ref": "G",
      "alt": "GC",
      "effect": "frameshift_variant",
      "transcript": "NM_017730.4",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "NM_198880.3",
          "protein_id": "NP_942581.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2134,
          "cdna_end": null,
          "cdna_length": 3257,
          "mane_select": "ENST00000395443.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_198880.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000395443.7",
          "protein_id": "ENSP00000378830.2",
          "transcript_support_level": 1,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2134,
          "cdna_end": null,
          "cdna_length": 3257,
          "mane_select": "NM_198880.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395443.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000290315",
          "gene_hgnc_id": null,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000703936.1",
          "protein_id": "ENSP00000515567.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 1194,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 3585,
          "cdna_start": 2134,
          "cdna_end": null,
          "cdna_length": 3804,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000703936.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "NM_001320580.2",
          "protein_id": "NP_001307509.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2390,
          "cdna_end": null,
          "cdna_length": 3513,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320580.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "NM_001320581.2",
          "protein_id": "NP_001307510.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2409,
          "cdna_end": null,
          "cdna_length": 3532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320581.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "NM_001320582.2",
          "protein_id": "NP_001307511.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2349,
          "cdna_end": null,
          "cdna_length": 3472,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320582.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "NM_001320583.2",
          "protein_id": "NP_001307512.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2330,
          "cdna_end": null,
          "cdna_length": 3453,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320583.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "NM_001320584.1",
          "protein_id": "NP_001307513.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2011,
          "cdna_end": null,
          "cdna_length": 3134,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320584.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "NM_001320585.1",
          "protein_id": "NP_001307514.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2211,
          "cdna_end": null,
          "cdna_length": 3334,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320585.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "NM_017730.4",
          "protein_id": "NP_060200.2",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2194,
          "cdna_end": null,
          "cdna_length": 3317,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_017730.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000357496.6",
          "protein_id": "ENSP00000350094.2",
          "transcript_support_level": 2,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2185,
          "cdna_end": null,
          "cdna_length": 3083,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357496.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000411682.2",
          "protein_id": "ENSP00000412870.2",
          "transcript_support_level": 5,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1953,
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          "cdna_start": 2001,
          "cdna_end": null,
          "cdna_length": 2566,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000411682.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000424300.5",
          "protein_id": "ENSP00000412890.1",
          "transcript_support_level": 2,
          "aa_start": 651,
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          "cds_start": 1953,
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          "cdna_start": 2391,
          "cdna_end": null,
          "cdna_length": 3009,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000424300.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000703871.1",
          "protein_id": "ENSP00000515516.1",
          "transcript_support_level": null,
          "aa_start": 651,
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          "cds_start": 1953,
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          "cdna_start": 2419,
          "cdna_end": null,
          "cdna_length": 3461,
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        },
        {
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          "aa_alt": "L?",
          "canonical": false,
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000703942.1",
          "protein_id": "ENSP00000515573.1",
          "transcript_support_level": null,
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          "cds_start": 1953,
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          "cdna_start": 2328,
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          "cdna_length": 3051,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000703942.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000887075.1",
          "protein_id": "ENSP00000557134.1",
          "transcript_support_level": null,
          "aa_start": 651,
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          "cds_start": 1953,
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          "cdna_start": 2025,
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          "cdna_length": 3146,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000887076.1",
          "protein_id": "ENSP00000557135.1",
          "transcript_support_level": null,
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        },
        {
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "QRICH1",
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          "hgvs_c": "c.1953dupG",
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "QRICH1",
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          "hgvs_c": "c.1953dupG",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000887079.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "QRICH1",
          "gene_hgnc_id": 24713,
          "hgvs_c": "c.1953dupG",
          "hgvs_p": "p.Arg652fs",
          "transcript": "ENST00000887080.1",
          "protein_id": "ENSP00000557139.1",
          "transcript_support_level": null,
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          "cdna_start": 3208,
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          "cdna_length": 4329,
          "mane_select": null,
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For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.