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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: 11-13419556-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=13419556&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BTBD10",
"hgnc_id": 21445,
"hgvs_c": "c.512T>A",
"hgvs_p": "p.Ile171Lys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001297742.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.4487,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11160650849342346,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_032320.7",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278174.10",
"protein_coding": true,
"protein_id": "NP_115696.2",
"strand": false,
"transcript": "NM_032320.7",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000278174.10",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032320.7",
"protein_coding": true,
"protein_id": "ENSP00000278174.5",
"strand": false,
"transcript": "ENST00000278174.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1325,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000525864.5",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "n.476T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000525864.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 518,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1557,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000944229.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614288.1",
"strand": false,
"transcript": "ENST00000944229.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 510,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1533,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874031.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544090.1",
"strand": false,
"transcript": "ENST00000874031.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 510,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1533,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874034.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544093.1",
"strand": false,
"transcript": "ENST00000874034.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 483,
"aa_ref": "I",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1452,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001297742.2",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.512T>A",
"hgvs_p": "p.Ile171Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284671.1",
"strand": false,
"transcript": "NM_001297742.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 483,
"aa_ref": "I",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1452,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000530907.5",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.512T>A",
"hgvs_p": "p.Ile171Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431186.1",
"strand": false,
"transcript": "ENST00000530907.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874027.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544086.1",
"strand": false,
"transcript": "ENST00000874027.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 735,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874028.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544087.1",
"strand": false,
"transcript": "ENST00000874028.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 688,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874029.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544088.1",
"strand": false,
"transcript": "ENST00000874029.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874030.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544089.1",
"strand": false,
"transcript": "ENST00000874030.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874032.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544091.1",
"strand": false,
"transcript": "ENST00000874032.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 688,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874033.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544092.1",
"strand": false,
"transcript": "ENST00000874033.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874035.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544094.1",
"strand": false,
"transcript": "ENST00000874035.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874036.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544095.1",
"strand": false,
"transcript": "ENST00000874036.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2764,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874037.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544096.1",
"strand": false,
"transcript": "ENST00000874037.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000874038.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544097.1",
"strand": false,
"transcript": "ENST00000874038.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 569,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000939227.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609286.1",
"strand": false,
"transcript": "ENST00000939227.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000939228.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609287.1",
"strand": false,
"transcript": "ENST00000939228.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2600,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1428,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944226.1",
"gene_hgnc_id": 21445,
"gene_symbol": "BTBD10",
"hgvs_c": "c.488T>A",
"hgvs_p": "p.Ile163Lys",
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"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.394,
"pos": 13419556,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.13,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001297742.2"
}
]
}