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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: 3-47000180-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47000180&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47000180,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000450053.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4081G>T",
"hgvs_p": "p.Glu1361*",
"transcript": "NM_015175.3",
"protein_id": "NP_055990.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 2754,
"cds_start": 4081,
"cds_end": null,
"cds_length": 8265,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 8842,
"mane_select": "ENST00000450053.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4081G>T",
"hgvs_p": "p.Glu1361*",
"transcript": "ENST00000450053.8",
"protein_id": "ENSP00000415034.2",
"transcript_support_level": 2,
"aa_start": 1361,
"aa_end": null,
"aa_length": 2754,
"cds_start": 4081,
"cds_end": null,
"cds_length": 8265,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 8842,
"mane_select": "NM_015175.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.1958-16G>T",
"hgvs_p": null,
"transcript": "ENST00000416683.5",
"protein_id": "ENSP00000410405.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2041,
"cds_start": -4,
"cds_end": null,
"cds_length": 6126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3979G>T",
"hgvs_p": "p.Glu1327*",
"transcript": "NM_001365116.2",
"protein_id": "NP_001352045.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 2720,
"cds_start": 3979,
"cds_end": null,
"cds_length": 8163,
"cdna_start": 4037,
"cdna_end": null,
"cdna_length": 8602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3979G>T",
"hgvs_p": "p.Glu1327*",
"transcript": "ENST00000651747.1",
"protein_id": "ENSP00000499216.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 2720,
"cds_start": 3979,
"cds_end": null,
"cds_length": 8163,
"cdna_start": 4037,
"cdna_end": null,
"cdna_length": 8605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4060G>T",
"hgvs_p": "p.Glu1354*",
"transcript": "XM_047447785.1",
"protein_id": "XP_047303741.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 2747,
"cds_start": 4060,
"cds_end": null,
"cds_length": 8244,
"cdna_start": 4118,
"cdna_end": null,
"cdna_length": 8683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4000G>T",
"hgvs_p": "p.Glu1334*",
"transcript": "XM_006713072.4",
"protein_id": "XP_006713135.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 2727,
"cds_start": 4000,
"cds_end": null,
"cds_length": 8184,
"cdna_start": 4196,
"cdna_end": null,
"cdna_length": 8761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4081G>T",
"hgvs_p": "p.Glu1361*",
"transcript": "XM_011533533.3",
"protein_id": "XP_011531835.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 2724,
"cds_start": 4081,
"cds_end": null,
"cds_length": 8175,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 8752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3712G>T",
"hgvs_p": "p.Glu1238*",
"transcript": "XM_047447786.1",
"protein_id": "XP_047303742.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 2631,
"cds_start": 3712,
"cds_end": null,
"cds_length": 7896,
"cdna_start": 3908,
"cdna_end": null,
"cdna_length": 8473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3631G>T",
"hgvs_p": "p.Glu1211*",
"transcript": "XM_047447787.1",
"protein_id": "XP_047303743.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 2604,
"cds_start": 3631,
"cds_end": null,
"cds_length": 7815,
"cdna_start": 3827,
"cdna_end": null,
"cdna_length": 8392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3541G>T",
"hgvs_p": "p.Glu1181*",
"transcript": "XM_047447788.1",
"protein_id": "XP_047303744.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 2574,
"cds_start": 3541,
"cds_end": null,
"cds_length": 7725,
"cdna_start": 4765,
"cdna_end": null,
"cdna_length": 9330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3346G>T",
"hgvs_p": "p.Glu1116*",
"transcript": "XM_047447789.1",
"protein_id": "XP_047303745.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 2509,
"cds_start": 3346,
"cds_end": null,
"cds_length": 7530,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4081G>T",
"hgvs_p": "p.Glu1361*",
"transcript": "XM_047447790.1",
"protein_id": "XP_047303746.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 2435,
"cds_start": 4081,
"cds_end": null,
"cds_length": 7308,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.2989G>T",
"hgvs_p": "p.Glu997*",
"transcript": "XM_047447791.1",
"protein_id": "XP_047303747.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 2390,
"cds_start": 2989,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 3102,
"cdna_end": null,
"cdna_length": 7667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4081G>T",
"hgvs_p": "p.Glu1361*",
"transcript": "XM_047447792.1",
"protein_id": "XP_047303748.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1793,
"cds_start": 4081,
"cds_end": null,
"cds_length": 5382,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3712G>T",
"hgvs_p": "p.Glu1238*",
"transcript": "XM_047447793.1",
"protein_id": "XP_047303749.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1670,
"cds_start": 3712,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 3908,
"cdna_end": null,
"cdna_length": 5294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.553G>T",
"hgvs_p": "p.Glu185*",
"transcript": "XM_047447794.1",
"protein_id": "XP_047303750.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 1578,
"cds_start": 553,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 5241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "n.418G>T",
"hgvs_p": null,
"transcript": "ENST00000652744.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"dbsnp": "rs1553663498",
"frequency_reference_population": 0.000010947252,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000109473,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5400000214576721,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.986,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000450053.8",
"gene_symbol": "NBEAL2",
"hgnc_id": 31928,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4081G>T",
"hgvs_p": "p.Glu1361*"
}
],
"clinvar_disease": "Gray platelet syndrome,NBEAL2-related disorder",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Gray platelet syndrome|NBEAL2-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}