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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: 14-58547845-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58547845&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 58547845,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000652326.2",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4560G>A",
          "hgvs_p": "p.Pro1520Pro",
          "transcript": "NM_001329943.3",
          "protein_id": "NP_001316872.1",
          "transcript_support_level": null,
          "aa_start": 1520,
          "aa_end": null,
          "aa_length": 1548,
          "cds_start": 4560,
          "cds_end": null,
          "cds_length": 4647,
          "cdna_start": 5106,
          "cdna_end": null,
          "cdna_length": 8558,
          "mane_select": "ENST00000652326.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4560G>A",
          "hgvs_p": "p.Pro1520Pro",
          "transcript": "ENST00000652326.2",
          "protein_id": "ENSP00000498929.1",
          "transcript_support_level": null,
          "aa_start": 1520,
          "aa_end": null,
          "aa_length": 1548,
          "cds_start": 4560,
          "cds_end": null,
          "cds_length": 4647,
          "cdna_start": 5106,
          "cdna_end": null,
          "cdna_length": 8558,
          "mane_select": "NM_001329943.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4515G>A",
          "hgvs_p": "p.Pro1505Pro",
          "transcript": "ENST00000619416.4",
          "protein_id": "ENSP00000478083.1",
          "transcript_support_level": 1,
          "aa_start": 1505,
          "aa_end": null,
          "aa_length": 1533,
          "cds_start": 4515,
          "cds_end": null,
          "cds_length": 4602,
          "cdna_start": 4789,
          "cdna_end": null,
          "cdna_length": 8233,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4428G>A",
          "hgvs_p": "p.Pro1476Pro",
          "transcript": "ENST00000423743.7",
          "protein_id": "ENSP00000399427.3",
          "transcript_support_level": 1,
          "aa_start": 1476,
          "aa_end": null,
          "aa_length": 1504,
          "cds_start": 4428,
          "cds_end": null,
          "cds_length": 4515,
          "cdna_start": 4686,
          "cdna_end": null,
          "cdna_length": 5339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4332G>A",
          "hgvs_p": "p.Pro1444Pro",
          "transcript": "ENST00000261244.9",
          "protein_id": "ENSP00000261244.5",
          "transcript_support_level": 1,
          "aa_start": 1444,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": 4332,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": 4607,
          "cdna_end": null,
          "cdna_length": 4807,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4804G>A",
          "hgvs_p": "p.Val1602Ile",
          "transcript": "NM_001244189.2",
          "protein_id": "NP_001231118.1",
          "transcript_support_level": null,
          "aa_start": 1602,
          "aa_end": null,
          "aa_length": 1644,
          "cds_start": 4804,
          "cds_end": null,
          "cds_length": 4935,
          "cdna_start": 5033,
          "cdna_end": null,
          "cdna_length": 8485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4804G>A",
          "hgvs_p": "p.Val1602Ile",
          "transcript": "ENST00000354386.10",
          "protein_id": "ENSP00000346359.6",
          "transcript_support_level": 2,
          "aa_start": 1602,
          "aa_end": null,
          "aa_length": 1644,
          "cds_start": 4804,
          "cds_end": null,
          "cds_length": 4935,
          "cdna_start": 5048,
          "cdna_end": null,
          "cdna_length": 5226,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4645G>A",
          "hgvs_p": "p.Val1549Ile",
          "transcript": "NM_001329944.2",
          "protein_id": "NP_001316873.1",
          "transcript_support_level": null,
          "aa_start": 1549,
          "aa_end": null,
          "aa_length": 1591,
          "cds_start": 4645,
          "cds_end": null,
          "cds_length": 4776,
          "cdna_start": 5191,
          "cdna_end": null,
          "cdna_length": 8643,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.2164G>A",
          "hgvs_p": "p.Val722Ile",
          "transcript": "ENST00000651852.1",
          "protein_id": "ENSP00000498990.1",
          "transcript_support_level": null,
          "aa_start": 722,
          "aa_end": null,
          "aa_length": 764,
          "cds_start": 2164,
          "cds_end": null,
          "cds_length": 2295,
          "cdna_start": 2164,
          "cdna_end": null,
          "cdna_length": 3109,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4768G>A",
          "hgvs_p": "p.Val1590Ile",
          "transcript": "XM_024449779.2",
          "protein_id": "XP_024305547.1",
          "transcript_support_level": null,
          "aa_start": 1590,
          "aa_end": null,
          "aa_length": 1632,
          "cds_start": 4768,
          "cds_end": null,
          "cds_length": 4899,
          "cdna_start": 5314,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4669G>A",
          "hgvs_p": "p.Val1557Ile",
          "transcript": "XM_024449780.2",
          "protein_id": "XP_024305548.1",
          "transcript_support_level": null,
          "aa_start": 1557,
          "aa_end": null,
          "aa_length": 1599,
          "cds_start": 4669,
          "cds_end": null,
          "cds_length": 4800,
          "cdna_start": 5215,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 31,
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          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4513G>A",
          "hgvs_p": "p.Val1505Ile",
          "transcript": "XM_047432001.1",
          "protein_id": "XP_047287957.1",
          "transcript_support_level": null,
          "aa_start": 1505,
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          "cds_start": 4513,
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          "cdna_start": 5059,
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          "mane_select": null,
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        {
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          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 33,
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          "exon_count": 33,
          "intron_rank": null,
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          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4513G>A",
          "hgvs_p": "p.Val1505Ile",
          "transcript": "XM_047432002.1",
          "protein_id": "XP_047287958.1",
          "transcript_support_level": null,
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          "feature": null
        },
        {
          "aa_ref": "V",
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4249G>A",
          "hgvs_p": "p.Val1417Ile",
          "transcript": "XM_024449787.2",
          "protein_id": "XP_024305555.1",
          "transcript_support_level": null,
          "aa_start": 1417,
          "aa_end": null,
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          "cds_start": 4249,
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          "cdna_start": 4759,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "P",
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          "strand": true,
          "consequences": [
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          "exon_count": 32,
          "intron_rank": null,
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          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4515G>A",
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          "transcript": "NM_001244190.2",
          "protein_id": "NP_001231119.1",
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4494G>A",
          "hgvs_p": "p.Pro1498Pro",
          "transcript": "NM_001329946.2",
          "protein_id": "NP_001316875.1",
          "transcript_support_level": null,
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          "cdna_start": 5040,
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          "feature": null
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        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4479G>A",
          "hgvs_p": "p.Pro1493Pro",
          "transcript": "ENST00000650904.1",
          "protein_id": "ENSP00000498606.1",
          "transcript_support_level": null,
          "aa_start": 1493,
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        {
          "aa_ref": "P",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "KIAA0586",
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          "hgvs_c": "c.4428G>A",
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          "transcript": "NM_001244192.2",
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        },
        {
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        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0586",
          "gene_hgnc_id": 19960,
          "hgvs_c": "c.4332G>A",
          "hgvs_p": "p.Pro1444Pro",
          "transcript": "NM_014749.5",
          "protein_id": "NP_055564.3",
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          "aa_start": 1444,
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          "cds_length": 4419,
          "cdna_start": 4878,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
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      "bayesdelnoaf_score": -0.7,
      "bayesdelnoaf_prediction": "Benign",
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      "spliceai_max_score": 0,
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      "acmg_classification": "Benign",
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      "clinvar_disease": "Joubert syndrome 23,Short-rib thoracic dysplasia 14 with polydactyly,not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:4",
      "phenotype_combined": "Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}