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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: 11-4449652-TTC-CTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=4449652&ref=TTC&alt=CTT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "OR52K2",
"hgnc_id": 15223,
"hgvs_c": "c.313_315delTTCinsCTT",
"hgvs_p": "p.Phe105Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001005172.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000291144",
"hgnc_id": null,
"hgvs_c": "n.387-19715_387-19713delTTCinsCTT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000641797.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 314,
"aa_ref": "F",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1067,
"cdna_start": 358,
"cds_end": null,
"cds_length": 945,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001005172.2",
"gene_hgnc_id": 15223,
"gene_symbol": "OR52K2",
"hgvs_c": "c.313_315delTTCinsCTT",
"hgvs_p": "p.Phe105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325719.4",
"protein_coding": true,
"protein_id": "NP_001005172.2",
"strand": true,
"transcript": "NM_001005172.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 314,
"aa_ref": "F",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1067,
"cdna_start": 358,
"cds_end": null,
"cds_length": 945,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000325719.4",
"gene_hgnc_id": 15223,
"gene_symbol": "OR52K2",
"hgvs_c": "c.313_315delTTCinsCTT",
"hgvs_p": "p.Phe105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001005172.2",
"protein_coding": true,
"protein_id": "ENSP00000318956.4",
"strand": true,
"transcript": "ENST00000325719.4",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000641797.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.387-19715_387-19713delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000641797.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 972,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685350.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.392-19715_392-19713delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000685350.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688083.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.384-19715_384-19713delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000688083.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690302.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.398+55487_398+55489delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000690302.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690343.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.399-25110_399-25108delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000690343.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 912,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691418.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.373+55487_373+55489delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000691418.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000692525.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.357-19715_357-19713delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000692525.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 913,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000693118.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.366-54456_366-54454delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000693118.2",
"transcript_support_level": null
},
{
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000743353.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.377-19715_377-19713delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000743353.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000743354.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.364-54456_364-54454delTTCinsCTT",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000743354.1",
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},
{
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"biotype": "pseudogene",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000743355.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.319-19715_319-19713delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000743355.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 785,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000743356.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.468+1617_468+1619delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000743356.1",
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},
{
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"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000743357.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.452+1617_452+1619delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000743357.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000743358.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.347-54456_347-54454delTTCinsCTT",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000743358.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"consequences": [
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],
"exon_count": 2,
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"feature": "ENST00000743359.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.364-25113_364-25111delTTCinsCTT",
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"strand": true,
"transcript": "ENST00000743359.1",
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},
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"consequences": [
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],
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"feature": "ENST00000743360.1",
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"hgvs_c": "n.684-19715_684-19713delTTCinsCTT",
"hgvs_p": null,
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"mane_plus": null,
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"strand": true,
"transcript": "ENST00000743360.1",
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},
{
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"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000743361.1",
"gene_hgnc_id": null,
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"hgvs_c": "n.444+1617_444+1619delTTCinsCTT",
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"mane_plus": null,
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"strand": true,
"transcript": "ENST00000743361.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000743362.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.450+1617_450+1619delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000743362.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000743363.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291144",
"hgvs_c": "n.662-25110_662-25108delTTCinsCTT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
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