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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: 3-47001748-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47001748&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NBEAL2",
"hgnc_id": 31928,
"hgvs_c": "c.4704C>T",
"hgvs_p": "p.Asn1568Asn",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_015175.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7,BA1",
"acmg_score": -17,
"allele_count_reference_population": 45992,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "3",
"clinvar_classification": "Benign",
"clinvar_disease": "Gray platelet syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.3190000057220459,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2754,
"aa_ref": "N",
"aa_start": 1568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8842,
"cdna_start": 4900,
"cds_end": null,
"cds_length": 8265,
"cds_start": 4704,
"consequences": [
"synonymous_variant"
],
"exon_count": 54,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_015175.3",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4704C>T",
"hgvs_p": "p.Asn1568Asn",
"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": "N",
"aa_end": null,
"aa_length": 2754,
"aa_ref": "N",
"aa_start": 1568,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8842,
"cdna_start": 4900,
"cds_end": null,
"cds_length": 8265,
"cds_start": 4704,
"consequences": [
"synonymous_variant"
],
"exon_count": 54,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000450053.8",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4704C>T",
"hgvs_p": "p.Asn1568Asn",
"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": "N",
"aa_end": null,
"aa_length": 2041,
"aa_ref": "N",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6364,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 6126,
"cds_start": 2565,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000416683.5",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Asn855Asn",
"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": "N",
"aa_end": null,
"aa_length": 2720,
"aa_ref": "N",
"aa_start": 1534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8602,
"cdna_start": 4660,
"cds_end": null,
"cds_length": 8163,
"cds_start": 4602,
"consequences": [
"synonymous_variant"
],
"exon_count": 53,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001365116.2",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4602C>T",
"hgvs_p": "p.Asn1534Asn",
"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": "N",
"aa_end": null,
"aa_length": 2720,
"aa_ref": "N",
"aa_start": 1534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8605,
"cdna_start": 4660,
"cds_end": null,
"cds_length": 8163,
"cds_start": 4602,
"consequences": [
"synonymous_variant"
],
"exon_count": 53,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000651747.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4602C>T",
"hgvs_p": "p.Asn1534Asn",
"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": "N",
"aa_end": null,
"aa_length": 2674,
"aa_ref": "N",
"aa_start": 1488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8476,
"cdna_start": 4536,
"cds_end": null,
"cds_length": 8025,
"cds_start": 4464,
"consequences": [
"synonymous_variant"
],
"exon_count": 52,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000933460.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4464C>T",
"hgvs_p": "p.Asn1488Asn",
"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": "N",
"aa_end": null,
"aa_length": 2604,
"aa_ref": "N",
"aa_start": 1541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8340,
"cdna_start": 4761,
"cds_end": null,
"cds_length": 7815,
"cds_start": 4623,
"consequences": [
"synonymous_variant"
],
"exon_count": 52,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000952756.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4623C>T",
"hgvs_p": "p.Asn1541Asn",
"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": "N",
"aa_end": null,
"aa_length": 2747,
"aa_ref": "N",
"aa_start": 1561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8683,
"cdna_start": 4741,
"cds_end": null,
"cds_length": 8244,
"cds_start": 4683,
"consequences": [
"synonymous_variant"
],
"exon_count": 54,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047447785.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4683C>T",
"hgvs_p": "p.Asn1561Asn",
"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": "N",
"aa_end": null,
"aa_length": 2727,
"aa_ref": "N",
"aa_start": 1541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8761,
"cdna_start": 4819,
"cds_end": null,
"cds_length": 8184,
"cds_start": 4623,
"consequences": [
"synonymous_variant"
],
"exon_count": 53,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_006713072.4",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4623C>T",
"hgvs_p": "p.Asn1541Asn",
"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": "N",
"aa_end": null,
"aa_length": 2724,
"aa_ref": "N",
"aa_start": 1568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8752,
"cdna_start": 4900,
"cds_end": null,
"cds_length": 8175,
"cds_start": 4704,
"consequences": [
"synonymous_variant"
],
"exon_count": 53,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011533533.3",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4704C>T",
"hgvs_p": "p.Asn1568Asn",
"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": "N",
"aa_end": null,
"aa_length": 2631,
"aa_ref": "N",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8473,
"cdna_start": 4531,
"cds_end": null,
"cds_length": 7896,
"cds_start": 4335,
"consequences": [
"synonymous_variant"
],
"exon_count": 52,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047447786.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4335C>T",
"hgvs_p": "p.Asn1445Asn",
"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": "N",
"aa_end": null,
"aa_length": 2604,
"aa_ref": "N",
"aa_start": 1418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8392,
"cdna_start": 4450,
"cds_end": null,
"cds_length": 7815,
"cds_start": 4254,
"consequences": [
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047447787.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4254C>T",
"hgvs_p": "p.Asn1418Asn",
"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": "N",
"aa_end": null,
"aa_length": 2574,
"aa_ref": "N",
"aa_start": 1388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9330,
"cdna_start": 5388,
"cds_end": null,
"cds_length": 7725,
"cds_start": 4164,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047447788.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asn1388Asn",
"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": "N",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "N",
"aa_start": 1323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": 4656,
"cds_end": null,
"cds_length": 7530,
"cds_start": 3969,
"consequences": [
"synonymous_variant"
],
"exon_count": 53,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047447789.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.3969C>T",
"hgvs_p": "p.Asn1323Asn",
"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": "N",
"aa_end": null,
"aa_length": 2435,
"aa_ref": "N",
"aa_start": 1568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7598,
"cdna_start": 4900,
"cds_end": null,
"cds_length": 7308,
"cds_start": 4704,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047447790.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4704C>T",
"hgvs_p": "p.Asn1568Asn",
"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": "N",
"aa_end": null,
"aa_length": 2390,
"aa_ref": "N",
"aa_start": 1204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7667,
"cdna_start": 3725,
"cds_end": null,
"cds_length": 7173,
"cds_start": 3612,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047447791.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.3612C>T",
"hgvs_p": "p.Asn1204Asn",
"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": "N",
"aa_end": null,
"aa_length": 1793,
"aa_ref": "N",
"aa_start": 1568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 4900,
"cds_end": null,
"cds_length": 5382,
"cds_start": 4704,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047447792.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4704C>T",
"hgvs_p": "p.Asn1568Asn",
"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": "N",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "N",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5294,
"cdna_start": 4531,
"cds_end": null,
"cds_length": 5013,
"cds_start": 4335,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047447793.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.4335C>T",
"hgvs_p": "p.Asn1445Asn",
"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": "N",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "N",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5241,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 4737,
"cds_start": 1176,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047447794.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "c.1176C>T",
"hgvs_p": "p.Asn392Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303750.1",
"strand": true,
"transcript": "XM_047447794.1",
"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": 677,
"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": "ENST00000475689.1",
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"hgvs_c": "n.549C>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": "ENST00000475689.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs12489851",
"effect": "synonymous_variant",
"frequency_reference_population": 0.028497534,
"gene_hgnc_id": 31928,
"gene_symbol": "NBEAL2",
"gnomad_exomes_ac": 41363,
"gnomad_exomes_af": 0.0283,
"gnomad_exomes_homalt": 1955,
"gnomad_genomes_ac": 4629,
"gnomad_genomes_af": 0.0303928,
"gnomad_genomes_homalt": 226,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 2181,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Gray platelet syndrome|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -4.832,
"pos": 47001748,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.319,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015175.3"
}
]
}