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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: 21-45531642-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45531642&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 45531642,
      "ref": "A",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000311124.9",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.696T>G",
          "hgvs_p": "p.Pro232Pro",
          "transcript": "NM_194255.4",
          "protein_id": "NP_919231.1",
          "transcript_support_level": null,
          "aa_start": 232,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 696,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": 818,
          "cdna_end": null,
          "cdna_length": 4991,
          "mane_select": "ENST00000311124.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.696T>G",
          "hgvs_p": "p.Pro232Pro",
          "transcript": "ENST00000311124.9",
          "protein_id": "ENSP00000308895.4",
          "transcript_support_level": 1,
          "aa_start": 232,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 696,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": 818,
          "cdna_end": null,
          "cdna_length": 4991,
          "mane_select": "NM_194255.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.696T>G",
          "hgvs_p": "p.Pro232Pro",
          "transcript": "ENST00000567670.5",
          "protein_id": "ENSP00000457278.1",
          "transcript_support_level": 1,
          "aa_start": 232,
          "aa_end": null,
          "aa_length": 545,
          "cds_start": 696,
          "cds_end": null,
          "cds_length": 1638,
          "cdna_start": 1020,
          "cdna_end": null,
          "cdna_length": 2029,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.696T>G",
          "hgvs_p": "p.Pro232Pro",
          "transcript": "ENST00000380010.8",
          "protein_id": "ENSP00000369347.4",
          "transcript_support_level": 1,
          "aa_start": 232,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": 696,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": 849,
          "cdna_end": null,
          "cdna_length": 1884,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.696T>G",
          "hgvs_p": "p.Pro232Pro",
          "transcript": "NM_001352512.2",
          "protein_id": "NP_001339441.1",
          "transcript_support_level": null,
          "aa_start": 232,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 696,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": 805,
          "cdna_end": null,
          "cdna_length": 4978,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.576T>G",
          "hgvs_p": "p.Pro192Pro",
          "transcript": "NM_001205207.3",
          "protein_id": "NP_001192136.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 576,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 726,
          "cdna_end": null,
          "cdna_length": 4899,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.576T>G",
          "hgvs_p": "p.Pro192Pro",
          "transcript": "ENST00000485649.3",
          "protein_id": "ENSP00000441772.1",
          "transcript_support_level": 2,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 576,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 676,
          "cdna_end": null,
          "cdna_length": 1896,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.696T>G",
          "hgvs_p": "p.Pro232Pro",
          "transcript": "NM_001205206.4",
          "protein_id": "NP_001192135.1",
          "transcript_support_level": null,
          "aa_start": 232,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": 696,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": 818,
          "cdna_end": null,
          "cdna_length": 4021,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.696T>G",
          "hgvs_p": "p.Pro232Pro",
          "transcript": "NM_001352511.3",
          "protein_id": "NP_001339440.1",
          "transcript_support_level": null,
          "aa_start": 232,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": 696,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": 1029,
          "cdna_end": null,
          "cdna_length": 4232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC19A1",
          "gene_hgnc_id": 10937,
          "hgvs_c": "c.696T>G",
          "hgvs_p": "p.Pro232Pro",
          "transcript": "ENST00000650808.1",
          "protein_id": "ENSP00000498221.1",
          "transcript_support_level": null,
          "aa_start": 232,
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          "cds_start": 696,
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          "cds_length": 1470,
          "cdna_start": 1119,
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          "mane_select": null,
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        {
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          "protein_coding": true,
          "strand": false,
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          ],
          "exon_rank": 3,
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          "hgvs_c": "c.342T>G",
          "hgvs_p": "p.Pro114Pro",
          "transcript": "NM_001352510.2",
          "protein_id": "NP_001339439.1",
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          "aa_start": 114,
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          "cds_start": 342,
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          "cdna_start": 822,
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          "cdna_length": 4995,
          "mane_select": null,
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        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "intron_rank": null,
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          "gene_symbol": "SLC19A1",
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          "hgvs_c": "c.987T>G",
          "hgvs_p": "p.Pro329Pro",
          "transcript": "XM_011529696.3",
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        {
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          "protein_coding": true,
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          "hgvs_c": "c.987T>G",
          "hgvs_p": "p.Pro329Pro",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "gene_symbol": "SLC19A1",
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          "hgvs_c": "c.825T>G",
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          "transcript": "XM_047440956.1",
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        {
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        {
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          "gene_symbol": "SLC19A1",
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        {
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        {
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        {
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        {
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          "gene_symbol": "SLC19A1",
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          "hgvs_c": "c.696T>G",
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          "transcript": "XM_047440958.1",
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": null,
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}