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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: 2-218812578-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218812578&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP27A1",
"hgnc_id": 2605,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000784.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1203,
"alphamissense_prediction": null,
"alphamissense_score": 0.4075,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "Cardiovascular phenotype,Cholestanol storage disease,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012562274932861328,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1596,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000784.4",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258415.9",
"protein_coding": true,
"protein_id": "NP_000775.1",
"strand": true,
"transcript": "NM_000784.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1596,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000258415.9",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000784.4",
"protein_coding": true,
"protein_id": "ENSP00000258415.4",
"strand": true,
"transcript": "ENST00000258415.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1626,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901552.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571611.1",
"strand": true,
"transcript": "ENST00000901552.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1614,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901553.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571612.1",
"strand": true,
"transcript": "ENST00000901553.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1590,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901558.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571617.1",
"strand": true,
"transcript": "ENST00000901558.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 528,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1587,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901557.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571616.1",
"strand": true,
"transcript": "ENST00000901557.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1578,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901561.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571620.1",
"strand": true,
"transcript": "ENST00000901561.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 517,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1554,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901554.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571613.1",
"strand": true,
"transcript": "ENST00000901554.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1551,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901555.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Arg210Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571614.1",
"strand": true,
"transcript": "ENST00000901555.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 513,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1542,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901562.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571621.1",
"strand": true,
"transcript": "ENST00000901562.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1530,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901560.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571619.1",
"strand": true,
"transcript": "ENST00000901560.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1455,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901563.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571622.1",
"strand": true,
"transcript": "ENST00000901563.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1428,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901564.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571623.1",
"strand": true,
"transcript": "ENST00000901564.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 799,
"cdna_start": 526,
"cds_end": null,
"cds_length": 664,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000411688.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392671.1",
"strand": true,
"transcript": "ENST00000411688.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 473,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": null,
"cds_end": null,
"cds_length": 1422,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901559.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.604-105C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571618.1",
"strand": true,
"transcript": "ENST00000901559.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": null,
"cds_end": null,
"cds_length": 1398,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901556.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.646+157C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571615.1",
"strand": true,
"transcript": "ENST00000901556.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000445971.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "n.*134C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404945.1",
"strand": true,
"transcript": "ENST00000445971.1",
"transcript_support_level": 5
},
{
"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": 1210,
"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": "ENST00000466602.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "n.621C>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": "ENST00000466602.1",
"transcript_support_level": 2
},
{
"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": 2566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000494263.5",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "n.1107C>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": "ENST00000494263.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000445971.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "n.*134C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404945.1",
"strand": true,
"transcript": "ENST00000445971.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs114768494",
"effect": "missense_variant",
"frequency_reference_population": 0.0007452645,
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"gnomad_exomes_ac": 636,
"gnomad_exomes_af": 0.000435057,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_ac": 567,
"gnomad_genomes_af": 0.00372257,
"gnomad_genomes_homalt": 6,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 11,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|not provided|Cholestanol storage disease|Cardiovascular phenotype",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.264,
"pos": 218812578,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.545,
"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_000784.4"
}
]
}