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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: 2-218814752-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218814752&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218814752,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000784.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Ala491Thr",
"transcript": "NM_000784.4",
"protein_id": "NP_000775.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 531,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": "ENST00000258415.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000784.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Ala491Thr",
"transcript": "ENST00000258415.9",
"protein_id": "ENSP00000258415.4",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 531,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": "NM_000784.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258415.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Ala501Thr",
"transcript": "ENST00000901552.1",
"protein_id": "ENSP00000571611.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 541,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901552.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Ala497Thr",
"transcript": "ENST00000901553.1",
"protein_id": "ENSP00000571612.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 537,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901553.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Ala489Thr",
"transcript": "ENST00000901558.1",
"protein_id": "ENSP00000571617.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 529,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901558.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Ala491Thr",
"transcript": "ENST00000901557.1",
"protein_id": "ENSP00000571616.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 528,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901557.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Ala485Thr",
"transcript": "ENST00000901561.1",
"protein_id": "ENSP00000571620.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 525,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901561.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Ala477Thr",
"transcript": "ENST00000901554.1",
"protein_id": "ENSP00000571613.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 517,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901554.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Ala476Thr",
"transcript": "ENST00000901555.1",
"protein_id": "ENSP00000571614.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 516,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901555.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Ala473Thr",
"transcript": "ENST00000901562.1",
"protein_id": "ENSP00000571621.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 513,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901562.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Ala469Thr",
"transcript": "ENST00000901560.1",
"protein_id": "ENSP00000571619.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 509,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901560.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Ala444Thr",
"transcript": "ENST00000901563.1",
"protein_id": "ENSP00000571622.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 484,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901563.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Ala435Thr",
"transcript": "ENST00000901564.1",
"protein_id": "ENSP00000571623.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 475,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901564.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Ala433Thr",
"transcript": "ENST00000901559.1",
"protein_id": "ENSP00000571618.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 473,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901559.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Ala425Thr",
"transcript": "ENST00000901556.1",
"protein_id": "ENSP00000571615.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 465,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"hgvs_c": "n.2183G>A",
"hgvs_p": null,
"transcript": "ENST00000494263.5",
"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": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494263.5"
}
],
"gene_symbol": "CYP27A1",
"gene_hgnc_id": 2605,
"dbsnp": "rs72551323",
"frequency_reference_population": 0.00013196503,
"hom_count_reference_population": 2,
"allele_count_reference_population": 213,
"gnomad_exomes_af": 0.000140242,
"gnomad_genomes_af": 0.0000525258,
"gnomad_exomes_ac": 205,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04076692461967468,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.0683,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.57,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000784.4",
"gene_symbol": "CYP27A1",
"hgnc_id": 2605,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Ala491Thr"
}
],
"clinvar_disease": "CYP27A1-related disorder,Cholestanol storage disease,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not provided|Cholestanol storage disease|CYP27A1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}