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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: 4-17990709-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=17990709&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 17990709,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000635767.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.155-17824T>C",
          "hgvs_p": null,
          "transcript": "NM_001394446.1",
          "protein_id": "NP_001381375.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1871,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10321,
          "mane_select": "ENST00000635767.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.155-17824T>C",
          "hgvs_p": null,
          "transcript": "ENST00000635767.2",
          "protein_id": "ENSP00000490600.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1871,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10321,
          "mane_select": "NM_001394446.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.155-17824T>C",
          "hgvs_p": null,
          "transcript": "ENST00000326877.8",
          "protein_id": "ENSP00000317566.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 318,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 957,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5604,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.155-17824T>C",
          "hgvs_p": null,
          "transcript": "NM_001166139.2",
          "protein_id": "NP_001159611.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5058,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.155-17824T>C",
          "hgvs_p": null,
          "transcript": "ENST00000382226.5",
          "protein_id": "ENSP00000371661.5",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5009,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.-98-17824T>C",
          "hgvs_p": null,
          "transcript": "ENST00000382224.5",
          "protein_id": "ENSP00000371659.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
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          "cdna_length": 4984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.-373-17824T>C",
          "hgvs_p": null,
          "transcript": "NM_001365658.1",
          "protein_id": "NP_001352587.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5101,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.-373-17824T>C",
          "hgvs_p": null,
          "transcript": "NM_001365659.1",
          "protein_id": "NP_001352588.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": null,
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          "cdna_length": 5105,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.152-17824T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675605.1",
          "protein_id": "ENSP00000501939.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 1299,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_count": 8,
          "intron_rank": 1,
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          "gene_symbol": "LCORL",
          "gene_hgnc_id": 30776,
          "hgvs_c": "c.155-17824T>C",
          "hgvs_p": null,
          "transcript": "NM_001365660.1",
          "protein_id": "NP_001352589.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "gene_symbol": "LCORL",
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        {
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          "gene_symbol": "LCORL",
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          "gene_symbol": "LCORL",
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}