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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: 12-111757158-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111757158&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 111757158,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000546840.3",
      "consequences": [
        {
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000257767",
          "gene_hgnc_id": null,
          "hgvs_c": "c.102+1413T>A",
          "hgvs_p": null,
          "transcript": "ENST00000546840.3",
          "protein_id": "ENSP00000450353.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 259,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000546840.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "NM_025247.6",
          "protein_id": "NP_079523.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1059,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3180,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000313698.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_025247.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "ENST00000313698.9",
          "protein_id": "ENSP00000325137.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1059,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3180,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_025247.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000313698.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "ENST00000455480.6",
          "protein_id": "ENSP00000389813.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1090,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3273,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000455480.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "ENST00000893914.1",
          "protein_id": "ENSP00000563973.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1136,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3411,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893914.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "ENST00000893903.1",
          "protein_id": "ENSP00000563962.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1134,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3405,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893903.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "ENST00000893910.1",
          "protein_id": "ENSP00000563969.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893910.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "NM_001136538.2",
          "protein_id": "NP_001130010.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1090,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3273,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001136538.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "ENST00000893926.1",
          "protein_id": "ENSP00000563985.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1090,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3273,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893926.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "ENST00000893902.1",
          "protein_id": "ENSP00000563961.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1086,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3261,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000893902.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "ENST00000893907.1",
          "protein_id": "ENSP00000563966.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1059,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3180,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893907.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
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          "transcript": "ENST00000893912.1",
          "protein_id": "ENSP00000563971.1",
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          "aa_length": 1059,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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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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          "intron_rank": null,
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          "gene_symbol": "ACAD10",
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          "hgvs_c": "c.*685T>A",
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          "transcript": "ENST00000893916.1",
          "protein_id": "ENSP00000563975.1",
          "transcript_support_level": null,
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        {
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          "intron_rank": null,
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          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
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          "transcript": "ENST00000893917.1",
          "protein_id": "ENSP00000563976.1",
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        {
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        {
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          "exon_rank": null,
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "ACAD10",
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          "hgvs_c": "c.*685T>A",
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          "transcript": "ENST00000948211.1",
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          "intron_rank": null,
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          "gene_symbol": "ACAD10",
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        {
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          "consequences": [
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          ],
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "ACAD10",
          "gene_hgnc_id": 21597,
          "hgvs_c": "c.*685T>A",
          "hgvs_p": null,
          "transcript": "ENST00000938931.1",
          "protein_id": "ENSP00000608990.1",
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        {
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          "consequences": [
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          ],
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      "clinvar_disease": "",
      "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
}