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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: 1-160347594-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160347594&ref=G&alt=C&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": "NCSTN",
"hgnc_id": 17091,
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_015331.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 147225,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 709,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": null,
"cds_end": null,
"cds_length": 2130,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015331.3",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294785.10",
"protein_coding": true,
"protein_id": "NP_056146.1",
"strand": true,
"transcript": "NM_015331.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 709,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": null,
"cds_end": null,
"cds_length": 2130,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000294785.10",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015331.3",
"protein_coding": true,
"protein_id": "ENSP00000294785.5",
"strand": true,
"transcript": "ENST00000294785.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000368063.6",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "n.*120-1405G>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000357042.2",
"strand": true,
"transcript": "ENST00000368063.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 727,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": null,
"cds_end": null,
"cds_length": 2184,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913597.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.245-1405G>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583656.1",
"strand": true,
"transcript": "ENST00000913597.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 726,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": null,
"cds_end": null,
"cds_length": 2181,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874126.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544185.1",
"strand": true,
"transcript": "ENST00000874126.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 716,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": null,
"cds_end": null,
"cds_length": 2151,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874138.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544197.1",
"strand": true,
"transcript": "ENST00000874138.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 705,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": null,
"cds_end": null,
"cds_length": 2118,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874134.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544193.1",
"strand": true,
"transcript": "ENST00000874134.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 701,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": null,
"cds_end": null,
"cds_length": 2106,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874132.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544191.1",
"strand": true,
"transcript": "ENST00000874132.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 689,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001290184.2",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.131-1405G>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277113.1",
"strand": true,
"transcript": "NM_001290184.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 677,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": null,
"cds_end": null,
"cds_length": 2034,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913594.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583653.1",
"strand": true,
"transcript": "ENST00000913594.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2025,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000699538.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000514423.1",
"strand": true,
"transcript": "ENST00000699538.1",
"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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],
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"feature": "ENST00000699553.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000514430.1",
"strand": true,
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},
{
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],
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"feature": "ENST00000874133.1",
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"protein_id": "ENSP00000544192.1",
"strand": true,
"transcript": "ENST00000874133.1",
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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,
"cds_end": null,
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"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000913599.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000583658.1",
"strand": true,
"transcript": "ENST00000913599.1",
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},
{
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000874136.1",
"gene_hgnc_id": 17091,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000544195.1",
"strand": true,
"transcript": "ENST00000874136.1",
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},
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"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000874137.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000544196.1",
"strand": true,
"transcript": "ENST00000874137.1",
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},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 1917,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349729.2",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
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"protein_coding": true,
"protein_id": "NP_001336658.1",
"strand": true,
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},
{
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"consequences": [
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],
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"feature": "ENST00000874129.1",
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},
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],
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"feature": "ENST00000699546.1",
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"protein_id": "ENSP00000514428.1",
"strand": true,
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},
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000874135.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.86-2511G>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000544194.1",
"strand": true,
"transcript": "ENST00000874135.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1764,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913598.1",
"gene_hgnc_id": 17091,
"gene_symbol": "NCSTN",
"hgvs_c": "c.191-1405G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000583657.1",
"strand": true,
"transcript": "ENST00000913598.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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