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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: 8-132632793-CTT-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132632793&ref=CTT&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 132632793,
      "ref": "CTT",
      "alt": "C",
      "effect": "frameshift_variant",
      "transcript": "NM_012472.6",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.598_599delAA",
          "hgvs_p": "p.Lys200fs",
          "transcript": "NM_012472.6",
          "protein_id": "NP_036604.2",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": 651,
          "cdna_end": null,
          "cdna_length": 3343,
          "mane_select": "ENST00000620350.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012472.6"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.598_599delAA",
          "hgvs_p": "p.Lys200fs",
          "transcript": "ENST00000620350.5",
          "protein_id": "ENSP00000484634.1",
          "transcript_support_level": 1,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": 651,
          "cdna_end": null,
          "cdna_length": 3343,
          "mane_select": "NM_012472.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000620350.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.598_599delAA",
          "hgvs_p": "p.Lys200fs",
          "transcript": "ENST00000519595.5",
          "protein_id": "ENSP00000429791.1",
          "transcript_support_level": 1,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": 698,
          "cdna_end": null,
          "cdna_length": 1736,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000519595.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.598_599delAA",
          "hgvs_p": "p.Lys200fs",
          "transcript": "ENST00000250173.5",
          "protein_id": "ENSP00000250173.2",
          "transcript_support_level": 1,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": 665,
          "cdna_end": null,
          "cdna_length": 1672,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000250173.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.598_599delAA",
          "hgvs_p": "p.Lys200fs",
          "transcript": "ENST00000518642.5",
          "protein_id": "ENSP00000428610.1",
          "transcript_support_level": 1,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": 665,
          "cdna_end": null,
          "cdna_length": 1674,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000518642.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.598_599delAA",
          "hgvs_p": "p.Lys200fs",
          "transcript": "ENST00000869719.1",
          "protein_id": "ENSP00000539778.1",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": 665,
          "cdna_end": null,
          "cdna_length": 3431,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869719.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.598_599delAA",
          "hgvs_p": "p.Lys200fs",
          "transcript": "ENST00000940685.1",
          "protein_id": "ENSP00000610744.1",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": 717,
          "cdna_end": null,
          "cdna_length": 1750,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940685.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.598_599delAA",
          "hgvs_p": "p.Lys200fs",
          "transcript": "NM_001321961.2",
          "protein_id": "NP_001308890.1",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": 651,
          "cdna_end": null,
          "cdna_length": 3283,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321961.2"
        },
        {
          "aa_ref": "K",
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.598_599delAA",
          "hgvs_p": "p.Lys200fs",
          "transcript": "ENST00000869720.1",
          "protein_id": "ENSP00000539779.1",
          "transcript_support_level": null,
          "aa_start": 200,
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          "cds_start": 598,
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          "cdna_start": 642,
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          "cdna_length": 3274,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": 5,
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          "intron_rank": null,
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          "gene_symbol": "DNAAF11",
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          "hgvs_c": "c.598_599delAA",
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          "transcript": "ENST00000940684.1",
          "protein_id": "ENSP00000610743.1",
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          "intron_rank": null,
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          "gene_symbol": "DNAAF11",
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          "hgvs_c": "c.352_353delAA",
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          "transcript": "NM_001321962.2",
          "protein_id": "NP_001308891.1",
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          "cds_start": 352,
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        {
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        {
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        {
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        {
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        {
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          "gene_symbol": "DNAAF11",
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          "transcript": "XM_011516950.3",
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      "clinvar_disease": "Primary ciliary dyskinesia 19",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "P:2 O:1",
      "phenotype_combined": "Primary ciliary dyskinesia 19",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}
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