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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: 10-132348013-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=132348013&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 132348013,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000368614.8",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.583C>G",
          "hgvs_p": "p.Arg195Gly",
          "transcript": "NM_030626.3",
          "protein_id": "NP_085129.1",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": 695,
          "cdna_end": null,
          "cdna_length": 7971,
          "mane_select": "ENST00000368614.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.583C>G",
          "hgvs_p": "p.Arg195Gly",
          "transcript": "ENST00000368614.8",
          "protein_id": "ENSP00000357603.3",
          "transcript_support_level": 1,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": 695,
          "cdna_end": null,
          "cdna_length": 7971,
          "mane_select": "NM_030626.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.583C>G",
          "hgvs_p": "p.Arg195Gly",
          "transcript": "ENST00000368613.8",
          "protein_id": "ENSP00000357602.4",
          "transcript_support_level": 1,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": 889,
          "cdna_end": null,
          "cdna_length": 2113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.583C>G",
          "hgvs_p": "p.Arg195Gly",
          "transcript": "ENST00000625755.2",
          "protein_id": "ENSP00000486582.1",
          "transcript_support_level": 1,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 383,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1152,
          "cdna_start": 733,
          "cdna_end": null,
          "cdna_length": 1738,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.583C>G",
          "hgvs_p": "p.Arg195Gly",
          "transcript": "NM_001143757.2",
          "protein_id": "NP_001137229.1",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": 975,
          "cdna_end": null,
          "cdna_length": 8251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.397C>G",
          "hgvs_p": "p.Arg133Gly",
          "transcript": "ENST00000368612.3",
          "protein_id": "ENSP00000357601.1",
          "transcript_support_level": 2,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 468,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 1407,
          "cdna_start": 542,
          "cdna_end": null,
          "cdna_length": 1765,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.583C>G",
          "hgvs_p": "p.Arg195Gly",
          "transcript": "NM_001143758.2",
          "protein_id": "NP_001137230.1",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 383,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1152,
          "cdna_start": 695,
          "cdna_end": null,
          "cdna_length": 1700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.583C>G",
          "hgvs_p": "p.Arg195Gly",
          "transcript": "NM_001143759.2",
          "protein_id": "NP_001137231.1",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 383,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1152,
          "cdna_start": 695,
          "cdna_end": null,
          "cdna_length": 1771,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.583C>G",
          "hgvs_p": "p.Arg195Gly",
          "transcript": "ENST00000344079.9",
          "protein_id": "ENSP00000342641.5",
          "transcript_support_level": 2,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 383,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1152,
          "cdna_start": 734,
          "cdna_end": null,
          "cdna_length": 1809,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC27",
          "gene_hgnc_id": 29346,
          "hgvs_c": "c.202C>G",
          "hgvs_p": "p.Arg68Gly",
          "transcript": "NM_001309474.2",
          "protein_id": "NP_001296403.1",
          "transcript_support_level": null,
          "aa_start": 68,
          "aa_end": null,
          "aa_length": 368,
          "cds_start": 202,
          "cds_end": null,
          "cds_length": 1107,
          "cdna_start": 455,
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          "mane_select": null,
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        {
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          "intron_rank": null,
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          "gene_symbol": "LRRC27",
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          "hgvs_c": "c.583C>G",
          "hgvs_p": "p.Arg195Gly",
          "transcript": "XM_011540208.2",
          "protein_id": "XP_011538510.1",
          "transcript_support_level": null,
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          "cds_start": 583,
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          "cdna_start": 861,
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          "mane_select": null,
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        {
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          "gene_symbol": "LRRC27",
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          "hgvs_c": "c.583C>G",
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          "transcript": "XM_011540209.3",
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        {
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          "transcript": "XM_017016690.3",
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        {
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      "clinvar_classification": "",
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}