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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: 5-17918466-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=17918466&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 17918466,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NR_134286.1",
      "consequences": [
        {
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.196-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000511596.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 578,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.552-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000514771.7",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1902,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.218-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000650405.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4660,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.1232-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000652301.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2533,
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.295-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000652872.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1594,
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.290-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000653777.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1589,
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.1028-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000655908.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1167,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.589-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000657374.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1086,
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.485-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000658985.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1839,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.412-275A>G",
          "hgvs_p": null,
          "transcript": "ENST00000661046.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2343,
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.361-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000662053.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1663,
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.264-8358A>G",
          "hgvs_p": null,
          "transcript": "ENST00000665296.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1483,
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.294-1761A>G",
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          "transcript": "ENST00000670782.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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        },
        {
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          "canonical": false,
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 4,
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          "gene_symbol": "LINC02223",
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          "hgvs_c": "n.1079-1761A>G",
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          "transcript": "ENST00000687269.1",
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.170-1761A>G",
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          "transcript": "ENST00000726135.1",
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        {
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          "gene_symbol": "LINC02223",
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          "hgvs_c": "n.235-1761A>G",
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          "transcript": "ENST00000726136.1",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
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          "hgvs_c": "n.272-1761A>G",
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          "transcript": "ENST00000726137.1",
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.233-1761A>G",
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          "transcript": "ENST00000726138.1",
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          "gene_symbol": "LINC02223",
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          "hgvs_c": "n.538-1761A>G",
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        {
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          ],
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          "gene_symbol": "LINC02223",
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          "hgvs_c": "n.361-1761A>G",
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          "transcript": "ENST00000726140.1",
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        {
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          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LINC02223",
          "gene_hgnc_id": 53092,
          "hgvs_c": "n.334-1761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000726141.1",
          "protein_id": null,
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          "cdna_start": null,
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        },
        {
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          ],
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      "custom_annotations": null
    }
  ],
  "message": null
}