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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: 18-45736305-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=45736305&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 45736305,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000321925.9",
      "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.471-151T>A",
          "hgvs_p": null,
          "transcript": "NM_015865.7",
          "protein_id": "NP_056949.4",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3917,
          "mane_select": "ENST00000321925.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.471-151T>A",
          "hgvs_p": null,
          "transcript": "ENST00000321925.9",
          "protein_id": "ENSP00000318546.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3917,
          "mane_select": "NM_015865.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.471-151T>A",
          "hgvs_p": null,
          "transcript": "ENST00000586142.5",
          "protein_id": "ENSP00000470476.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2846,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.471-151T>A",
          "hgvs_p": null,
          "transcript": "ENST00000589700.5",
          "protein_id": "ENSP00000465044.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1022,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.75-151T>A",
          "hgvs_p": null,
          "transcript": "ENST00000535474.5",
          "protein_id": "ENSP00000441998.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 257,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 774,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1048,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.639-151T>A",
          "hgvs_p": null,
          "transcript": "NM_001128588.4",
          "protein_id": "NP_001122060.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4075,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.639-151T>A",
          "hgvs_p": null,
          "transcript": "NM_001146037.1",
          "protein_id": "NP_001139509.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4226,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.639-151T>A",
          "hgvs_p": null,
          "transcript": "ENST00000415427.7",
          "protein_id": "ENSP00000412309.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.639-151T>A",
          "hgvs_p": null,
          "transcript": "ENST00000436407.7",
          "protein_id": "ENSP00000390637.2",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 445,
          "cds_start": -4,
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          "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": true,
          "consequences": [
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          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
          "gene_hgnc_id": 10918,
          "hgvs_c": "c.639-151T>A",
          "hgvs_p": null,
          "transcript": "NM_001439164.1",
          "protein_id": "NP_001426093.1",
          "transcript_support_level": null,
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          "aa_length": 402,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "SLC14A1",
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        {
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        {
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        {
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          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SLC14A1",
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          "hgvs_c": "n.277-151T>A",
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          "transcript": "ENST00000502059.7",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}