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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: 6-163423014-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=163423014&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 163423014,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_006775.3",
      "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "QKI",
          "gene_hgnc_id": 21100,
          "hgvs_c": "c.142+7679C>G",
          "hgvs_p": null,
          "transcript": "NM_006775.3",
          "protein_id": "NP_006766.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000361752.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006775.3"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "QKI",
          "gene_hgnc_id": 21100,
          "hgvs_c": "c.142+7679C>G",
          "hgvs_p": null,
          "transcript": "ENST00000361752.8",
          "protein_id": "ENSP00000355094.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006775.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361752.8"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "QKI",
          "gene_hgnc_id": 21100,
          "hgvs_c": "c.142+7679C>G",
          "hgvs_p": null,
          "transcript": "ENST00000361195.6",
          "protein_id": "ENSP00000354867.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1002,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361195.6"
        },
        {
          "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": "QKI",
          "gene_hgnc_id": 21100,
          "hgvs_c": "c.142+7679C>G",
          "hgvs_p": null,
          "transcript": "ENST00000275262.11",
          "protein_id": "ENSP00000275262.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000275262.11"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "QKI",
          "gene_hgnc_id": 21100,
          "hgvs_c": "c.142+7679C>G",
          "hgvs_p": null,
          "transcript": "ENST00000392127.6",
          "protein_id": "ENSP00000375973.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 319,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 960,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392127.6"
        },
        {
          "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": "QKI",
          "gene_hgnc_id": 21100,
          "hgvs_c": "c.142+7679C>G",
          "hgvs_p": null,
          "transcript": "ENST00000453779.6",
          "protein_id": "ENSP00000408775.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 319,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 960,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000453779.6"
        },
        {
          "aa_ref": null,
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          "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": "QKI",
          "gene_hgnc_id": 21100,
          "hgvs_c": "c.142+7679C>G",
          "hgvs_p": null,
          "transcript": "ENST00000424802.7",
          "protein_id": "ENSP00000408382.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 317,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 954,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000424802.7"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "QKI",
          "gene_hgnc_id": 21100,
          "hgvs_c": "c.142+7679C>G",
          "hgvs_p": null,
          "transcript": "ENST00000946874.1",
          "protein_id": "ENSP00000616933.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 369,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1110,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "QKI",
          "gene_hgnc_id": 21100,
          "hgvs_c": "c.142+7679C>G",
          "hgvs_p": null,
          "transcript": "ENST00000873379.1",
          "protein_id": "ENSP00000543438.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cds_length": 1023,
          "cdna_start": null,
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        {
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          ],
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          "gene_symbol": "QKI",
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          "hgvs_c": "c.142+7679C>G",
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          "transcript": "ENST00000930428.1",
          "protein_id": "ENSP00000600487.1",
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          "cds_start": null,
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          "gene_symbol": "QKI",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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}