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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: 3-46997310-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46997310&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "NBEAL2",
"hgnc_id": 31928,
"hgvs_c": "c.2701C>T",
"hgvs_p": "p.Arg901*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_015175.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Gray platelet syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2754,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8842,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 8265,
"cds_start": 2701,
"consequences": [
"stop_gained"
],
"exon_count": 54,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_015175.3",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2701C>T",
"hgvs_p": "p.Arg901*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000450053.8",
"protein_coding": true,
"protein_id": "NP_055990.1",
"strand": true,
"transcript": "NM_015175.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2754,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8842,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 8265,
"cds_start": 2701,
"consequences": [
"stop_gained"
],
"exon_count": 54,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000450053.8",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2701C>T",
"hgvs_p": "p.Arg901*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015175.3",
"protein_coding": true,
"protein_id": "ENSP00000415034.2",
"strand": true,
"transcript": "ENST00000450053.8",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2041,
"aa_ref": "R",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6364,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 6126,
"cds_start": 1114,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000416683.5",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Arg372*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410405.1",
"strand": true,
"transcript": "ENST00000416683.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2720,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8602,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 8163,
"cds_start": 2599,
"consequences": [
"stop_gained"
],
"exon_count": 53,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001365116.2",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2599C>T",
"hgvs_p": "p.Arg867*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352045.1",
"strand": true,
"transcript": "NM_001365116.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2720,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8605,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 8163,
"cds_start": 2599,
"consequences": [
"stop_gained"
],
"exon_count": 53,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000651747.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2599C>T",
"hgvs_p": "p.Arg867*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499216.1",
"strand": true,
"transcript": "ENST00000651747.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2674,
"aa_ref": "R",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8476,
"cdna_start": 2692,
"cds_end": null,
"cds_length": 8025,
"cds_start": 2620,
"consequences": [
"stop_gained"
],
"exon_count": 52,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000933460.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2620C>T",
"hgvs_p": "p.Arg874*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603519.1",
"strand": true,
"transcript": "ENST00000933460.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2604,
"aa_ref": "R",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8340,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 7815,
"cds_start": 2620,
"consequences": [
"stop_gained"
],
"exon_count": 52,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000952756.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2620C>T",
"hgvs_p": "p.Arg874*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622815.1",
"strand": true,
"transcript": "ENST00000952756.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2747,
"aa_ref": "R",
"aa_start": 894,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8683,
"cdna_start": 2738,
"cds_end": null,
"cds_length": 8244,
"cds_start": 2680,
"consequences": [
"stop_gained"
],
"exon_count": 54,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047447785.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2680C>T",
"hgvs_p": "p.Arg894*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303741.1",
"strand": true,
"transcript": "XM_047447785.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2727,
"aa_ref": "R",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8761,
"cdna_start": 2816,
"cds_end": null,
"cds_length": 8184,
"cds_start": 2620,
"consequences": [
"stop_gained"
],
"exon_count": 53,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_006713072.4",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2620C>T",
"hgvs_p": "p.Arg874*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713135.1",
"strand": true,
"transcript": "XM_006713072.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2724,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8752,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 8175,
"cds_start": 2701,
"consequences": [
"stop_gained"
],
"exon_count": 53,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011533533.3",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2701C>T",
"hgvs_p": "p.Arg901*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531835.1",
"strand": true,
"transcript": "XM_011533533.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2631,
"aa_ref": "R",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8473,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 7896,
"cds_start": 2332,
"consequences": [
"stop_gained"
],
"exon_count": 52,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047447786.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Arg778*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303742.1",
"strand": true,
"transcript": "XM_047447786.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2604,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8392,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 7815,
"cds_start": 2251,
"consequences": [
"stop_gained"
],
"exon_count": 51,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047447787.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2251C>T",
"hgvs_p": "p.Arg751*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303743.1",
"strand": true,
"transcript": "XM_047447787.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2574,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9330,
"cdna_start": 3385,
"cds_end": null,
"cds_length": 7725,
"cds_start": 2161,
"consequences": [
"stop_gained"
],
"exon_count": 49,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047447788.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303744.1",
"strand": true,
"transcript": "XM_047447788.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "R",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 7530,
"cds_start": 1966,
"consequences": [
"stop_gained"
],
"exon_count": 53,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047447789.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.1966C>T",
"hgvs_p": "p.Arg656*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303745.1",
"strand": true,
"transcript": "XM_047447789.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2435,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7598,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 7308,
"cds_start": 2701,
"consequences": [
"stop_gained"
],
"exon_count": 47,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047447790.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2701C>T",
"hgvs_p": "p.Arg901*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303746.1",
"strand": true,
"transcript": "XM_047447790.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2390,
"aa_ref": "R",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7667,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 7173,
"cds_start": 1609,
"consequences": [
"stop_gained"
],
"exon_count": 45,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047447791.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303747.1",
"strand": true,
"transcript": "XM_047447791.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1793,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 5382,
"cds_start": 2701,
"consequences": [
"stop_gained"
],
"exon_count": 33,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047447792.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2701C>T",
"hgvs_p": "p.Arg901*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303748.1",
"strand": true,
"transcript": "XM_047447792.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "R",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5294,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 5013,
"cds_start": 2332,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047447793.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Arg778*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303749.1",
"strand": true,
"transcript": "XM_047447793.1",
"transcript_support_level": null
},
{
"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": 529,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000652242.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "n.270C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000652242.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs387907112",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Gray platelet syndrome",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.829,
"pos": 46997310,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_015175.3"
}
]
}