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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: 3-27364888-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27364888&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NEK10",
"hgnc_id": 18592,
"hgvs_c": "c.-38+2635T>C",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_152534.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 8718,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8332,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394966.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+4337T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000691995.1",
"protein_coding": true,
"protein_id": "NP_001381895.1",
"strand": false,
"transcript": "NM_001394966.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8332,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691995.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+4337T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001394966.1",
"protein_coding": true,
"protein_id": "ENSP00000509472.1",
"strand": false,
"transcript": "ENST00000691995.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1172,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8503,
"cdna_start": null,
"cds_end": null,
"cds_length": 3519,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394970.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+4337T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381899.1",
"strand": false,
"transcript": "NM_001394970.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1172,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8543,
"cdna_start": null,
"cds_end": null,
"cds_length": 3519,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152534.6",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+2635T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689747.3",
"strand": false,
"transcript": "NM_152534.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1172,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": null,
"cds_end": null,
"cds_length": 3519,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429845.6",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-195-1044T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395849.2",
"strand": false,
"transcript": "ENST00000429845.6",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 1162,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8473,
"cdna_start": null,
"cds_end": null,
"cds_length": 3489,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394963.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+4337T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381892.1",
"strand": false,
"transcript": "NM_001394963.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1162,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": null,
"cds_end": null,
"cds_length": 3489,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936071.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-172+4337T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606130.1",
"strand": false,
"transcript": "ENST00000936071.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1143,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8416,
"cdna_start": null,
"cds_end": null,
"cds_length": 3432,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394964.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+4337T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381893.1",
"strand": false,
"transcript": "NM_001394964.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8362,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394965.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+4337T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381894.1",
"strand": false,
"transcript": "NM_001394965.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
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"feature": "NM_001394971.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+2635T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381900.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000898306.1",
"gene_hgnc_id": 18592,
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"mane_plus": null,
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"protein_coding": true,
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},
{
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"biotype": "protein_coding",
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"feature": "NM_001394967.1",
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},
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"feature": "NM_001394968.1",
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"protein_coding": true,
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},
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"consequences": [
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],
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"feature": "ENST00000945408.1",
"gene_hgnc_id": 18592,
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"protein_coding": true,
"protein_id": "ENSP00000615467.1",
"strand": false,
"transcript": "ENST00000945408.1",
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},
{
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],
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"feature": "NM_001394969.1",
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"protein_coding": true,
"protein_id": "NP_001381898.1",
"strand": false,
"transcript": "NM_001394969.1",
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},
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"consequences": [
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],
"exon_count": 25,
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"feature": "NM_199347.4",
"gene_hgnc_id": 18592,
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"hgvs_c": "c.-38+2635T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_955379.2",
"strand": false,
"transcript": "NM_199347.4",
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},
{
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"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000341435.9",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+2635T>C",
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"strand": false,
"transcript": "ENST00000341435.9",
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},
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],
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"feature": "ENST00000435750.1",
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},
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],
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"feature": "XM_017005762.3",
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},
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"consequences": [
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],
"exon_count": 39,
"exon_rank": null,
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"feature": "XM_017005763.2",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-172+4337T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016861252.1",
"strand": false,
"transcript": "XM_017005763.2",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
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"feature": "XM_017005764.2",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.-38+4143T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016861253.1",
"strand": false,
"transcript": "XM_017005764.2",
"transcript_support_level": null
},
{
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