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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: 17-8462845-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8462845&ref=C&alt=T&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": "NDEL1",
"hgnc_id": 17620,
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_030808.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 61087,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030808.5",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334527.12",
"protein_coding": true,
"protein_id": "NP_110435.1",
"strand": true,
"transcript": "NM_030808.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334527.12",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030808.5",
"protein_coding": true,
"protein_id": "ENSP00000333982.7",
"strand": true,
"transcript": "ENST00000334527.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852241.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.1034+2431C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522300.1",
"strand": true,
"transcript": "ENST00000852241.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852238.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522297.1",
"strand": true,
"transcript": "ENST00000852238.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852239.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522298.1",
"strand": true,
"transcript": "ENST00000852239.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852243.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522302.1",
"strand": true,
"transcript": "ENST00000852243.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852244.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522303.1",
"strand": true,
"transcript": "ENST00000852244.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852246.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522305.1",
"strand": true,
"transcript": "ENST00000852246.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852247.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522306.1",
"strand": true,
"transcript": "ENST00000852247.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2397,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916784.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586843.1",
"strand": true,
"transcript": "ENST00000916784.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000916785.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586844.1",
"strand": true,
"transcript": "ENST00000916785.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000953597.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000623656.1",
"strand": true,
"transcript": "ENST00000953597.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
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"feature": "ENST00000953599.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000623658.1",
"strand": true,
"transcript": "ENST00000953599.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953600.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.944+2685C>T",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000623659.1",
"strand": true,
"transcript": "ENST00000953600.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000953598.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.941+2685C>T",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000623657.1",
"strand": true,
"transcript": "ENST00000953598.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916783.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.938+2685C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586842.1",
"strand": true,
"transcript": "ENST00000916783.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": null,
"cds_end": null,
"cds_length": 987,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001025579.3",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.945-475C>T",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001020750.1",
"strand": true,
"transcript": "NM_001025579.3",
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},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000402554.7",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.945-475C>T",
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"protein_id": "ENSP00000384963.3",
"strand": true,
"transcript": "ENST00000402554.7",
"transcript_support_level": 5
},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000852245.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.793-475C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000522304.1",
"strand": true,
"transcript": "ENST00000852245.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852242.1",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.770+2685C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522301.1",
"strand": true,
"transcript": "ENST00000852242.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330129.2",
"gene_hgnc_id": 17620,
"gene_symbol": "NDEL1",
"hgvs_c": "c.793-4085C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317058.1",
"strand": true,
"transcript": "NM_001330129.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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