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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: 3-47002132-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47002132&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47002132,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_015175.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4995G>A",
"hgvs_p": "p.Val1665Val",
"transcript": "NM_015175.3",
"protein_id": "NP_055990.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 2754,
"cds_start": 4995,
"cds_end": null,
"cds_length": 8265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450053.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015175.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4995G>A",
"hgvs_p": "p.Val1665Val",
"transcript": "ENST00000450053.8",
"protein_id": "ENSP00000415034.2",
"transcript_support_level": 2,
"aa_start": 1665,
"aa_end": null,
"aa_length": 2754,
"cds_start": 4995,
"cds_end": null,
"cds_length": 8265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015175.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450053.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.2856G>A",
"hgvs_p": "p.Val952Val",
"transcript": "ENST00000416683.5",
"protein_id": "ENSP00000410405.1",
"transcript_support_level": 1,
"aa_start": 952,
"aa_end": null,
"aa_length": 2041,
"cds_start": 2856,
"cds_end": null,
"cds_length": 6126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416683.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Val33Val",
"transcript": "ENST00000443829.5",
"protein_id": "ENSP00000414560.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 1092,
"cds_start": 99,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443829.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4893G>A",
"hgvs_p": "p.Val1631Val",
"transcript": "NM_001365116.2",
"protein_id": "NP_001352045.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 2720,
"cds_start": 4893,
"cds_end": null,
"cds_length": 8163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365116.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4893G>A",
"hgvs_p": "p.Val1631Val",
"transcript": "ENST00000651747.1",
"protein_id": "ENSP00000499216.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 2720,
"cds_start": 4893,
"cds_end": null,
"cds_length": 8163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651747.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4755G>A",
"hgvs_p": "p.Val1585Val",
"transcript": "ENST00000933460.1",
"protein_id": "ENSP00000603519.1",
"transcript_support_level": null,
"aa_start": 1585,
"aa_end": null,
"aa_length": 2674,
"cds_start": 4755,
"cds_end": null,
"cds_length": 8025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933460.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4974G>A",
"hgvs_p": "p.Val1658Val",
"transcript": "XM_047447785.1",
"protein_id": "XP_047303741.1",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 2747,
"cds_start": 4974,
"cds_end": null,
"cds_length": 8244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447785.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4914G>A",
"hgvs_p": "p.Val1638Val",
"transcript": "XM_006713072.4",
"protein_id": "XP_006713135.1",
"transcript_support_level": null,
"aa_start": 1638,
"aa_end": null,
"aa_length": 2727,
"cds_start": 4914,
"cds_end": null,
"cds_length": 8184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713072.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4995G>A",
"hgvs_p": "p.Val1665Val",
"transcript": "XM_011533533.3",
"protein_id": "XP_011531835.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 2724,
"cds_start": 4995,
"cds_end": null,
"cds_length": 8175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533533.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4626G>A",
"hgvs_p": "p.Val1542Val",
"transcript": "XM_047447786.1",
"protein_id": "XP_047303742.1",
"transcript_support_level": null,
"aa_start": 1542,
"aa_end": null,
"aa_length": 2631,
"cds_start": 4626,
"cds_end": null,
"cds_length": 7896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447786.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4545G>A",
"hgvs_p": "p.Val1515Val",
"transcript": "XM_047447787.1",
"protein_id": "XP_047303743.1",
"transcript_support_level": null,
"aa_start": 1515,
"aa_end": null,
"aa_length": 2604,
"cds_start": 4545,
"cds_end": null,
"cds_length": 7815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447787.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4455G>A",
"hgvs_p": "p.Val1485Val",
"transcript": "XM_047447788.1",
"protein_id": "XP_047303744.1",
"transcript_support_level": null,
"aa_start": 1485,
"aa_end": null,
"aa_length": 2574,
"cds_start": 4455,
"cds_end": null,
"cds_length": 7725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447788.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4260G>A",
"hgvs_p": "p.Val1420Val",
"transcript": "XM_047447789.1",
"protein_id": "XP_047303745.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 2509,
"cds_start": 4260,
"cds_end": null,
"cds_length": 7530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447789.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4995G>A",
"hgvs_p": "p.Val1665Val",
"transcript": "XM_047447790.1",
"protein_id": "XP_047303746.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 2435,
"cds_start": 4995,
"cds_end": null,
"cds_length": 7308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447790.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3903G>A",
"hgvs_p": "p.Val1301Val",
"transcript": "XM_047447791.1",
"protein_id": "XP_047303747.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 2390,
"cds_start": 3903,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447791.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4995G>A",
"hgvs_p": "p.Val1665Val",
"transcript": "XM_047447792.1",
"protein_id": "XP_047303748.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 1793,
"cds_start": 4995,
"cds_end": null,
"cds_length": 5382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447792.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4626G>A",
"hgvs_p": "p.Val1542Val",
"transcript": "XM_047447793.1",
"protein_id": "XP_047303749.1",
"transcript_support_level": null,
"aa_start": 1542,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4626,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447793.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.1467G>A",
"hgvs_p": "p.Val489Val",
"transcript": "XM_047447794.1",
"protein_id": "XP_047303750.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 1578,
"cds_start": 1467,
"cds_end": null,
"cds_length": 4737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447794.1"
},
{
"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": 52,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4702-239G>A",
"hgvs_p": null,
"transcript": "ENST00000952756.1",
"protein_id": "ENSP00000622815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2604,
"cds_start": null,
"cds_end": null,
"cds_length": 7815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952756.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "n.*163G>A",
"hgvs_p": null,
"transcript": "ENST00000475689.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475689.1"
}
],
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"dbsnp": "rs2305635",
"frequency_reference_population": 0.3885966,
"hom_count_reference_population": 119430,
"allele_count_reference_population": 602519,
"gnomad_exomes_af": 0.393219,
"gnomad_genomes_af": 0.346112,
"gnomad_exomes_ac": 549865,
"gnomad_genomes_ac": 52654,
"gnomad_exomes_homalt": 109867,
"gnomad_genomes_homalt": 9563,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.052000001072883606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.438,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_015175.3",
"gene_symbol": "NBEAL2",
"hgnc_id": 31928,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4995G>A",
"hgvs_p": "p.Val1665Val"
}
],
"clinvar_disease": "Gray platelet syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Gray platelet syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}