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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: 9-121076879-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=121076879&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 121076879,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000373855.7",
      "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": 44,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "c.-205+1812G>C",
          "hgvs_p": null,
          "transcript": "NM_007018.6",
          "protein_id": "NP_008949.4",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2325,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6978,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7719,
          "mane_select": "ENST00000373855.7",
          "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": 44,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "c.-205+1812G>C",
          "hgvs_p": null,
          "transcript": "ENST00000373855.7",
          "protein_id": "ENSP00000362962.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2325,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6978,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7719,
          "mane_select": "NM_007018.6",
          "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": 32,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "c.-32+1812G>C",
          "hgvs_p": null,
          "transcript": "ENST00000373847.6",
          "protein_id": "ENSP00000362953.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1700,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5103,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5449,
          "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": 32,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "c.-32+1812G>C",
          "hgvs_p": null,
          "transcript": "NM_001369893.1",
          "protein_id": "NP_001356822.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1700,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5103,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5456,
          "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": 30,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "c.-32+1812G>C",
          "hgvs_p": null,
          "transcript": "NM_001369894.1",
          "protein_id": "NP_001356823.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5462,
          "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": 32,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "c.-575+1812G>C",
          "hgvs_p": null,
          "transcript": "NM_001369895.1",
          "protein_id": "NP_001356824.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1533,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4602,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5498,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "c.-32+1812G>C",
          "hgvs_p": null,
          "transcript": "ENST00000373865.8",
          "protein_id": "ENSP00000362972.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1621,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "c.-32+1812G>C",
          "hgvs_p": null,
          "transcript": "NM_001369896.1",
          "protein_id": "NP_001356825.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1695,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "n.100+1812G>C",
          "hgvs_p": null,
          "transcript": "ENST00000685174.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1597,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "n.188+1812G>C",
          "hgvs_p": null,
          "transcript": "ENST00000687079.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1305,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 43,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "n.106+1812G>C",
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          "transcript": "ENST00000687169.1",
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          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 9959,
          "mane_select": null,
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          "biotype": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
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          "exon_count": 17,
          "intron_rank": 1,
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          "gene_symbol": "CNTRL",
          "gene_hgnc_id": 1858,
          "hgvs_c": "n.-32+1812G>C",
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          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "CNTRL",
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          "hgvs_c": "n.106+1812G>C",
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        {
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          "gene_symbol": "CNTRL",
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          "transcript": "ENST00000689134.1",
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          "transcript": "ENST00000690496.1",
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          "gene_symbol": "CNTRL",
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        {
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          "gene_symbol": "CNTRL",
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          "gene_symbol": "CNTRL",
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          "hgvs_c": "c.-205+1812G>C",
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          "transcript": "XM_011518166.3",
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}