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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: 19-15879401-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15879401&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15879401,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001082.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys",
"transcript": "NM_001082.5",
"protein_id": "NP_001073.3",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 520,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221700.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys",
"transcript": "ENST00000221700.11",
"protein_id": "ENSP00000221700.3",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 520,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001082.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221700.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys",
"transcript": "ENST00000011989.11",
"protein_id": "ENSP00000011989.8",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 520,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000011989.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Glu480Lys",
"transcript": "ENST00000886782.1",
"protein_id": "ENSP00000556841.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 552,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886782.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys",
"transcript": "ENST00000886792.1",
"protein_id": "ENSP00000556851.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 520,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886792.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys",
"transcript": "ENST00000886794.1",
"protein_id": "ENSP00000556853.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 520,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886794.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys",
"transcript": "ENST00000965125.1",
"protein_id": "ENSP00000635184.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 520,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965125.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Glu446Lys",
"transcript": "ENST00000886790.1",
"protein_id": "ENSP00000556849.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 518,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886790.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Glu438Lys",
"transcript": "ENST00000886789.1",
"protein_id": "ENSP00000556848.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 510,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886789.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Glu437Lys",
"transcript": "ENST00000886788.1",
"protein_id": "ENSP00000556847.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 509,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886788.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000886793.1",
"protein_id": "ENSP00000556852.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 502,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886793.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Glu428Lys",
"transcript": "ENST00000886787.1",
"protein_id": "ENSP00000556846.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 500,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886787.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "ENST00000886785.1",
"protein_id": "ENSP00000556844.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 496,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886785.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Glu406Lys",
"transcript": "ENST00000886781.1",
"protein_id": "ENSP00000556840.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 478,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886781.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"transcript": "ENST00000886786.1",
"protein_id": "ENSP00000556845.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 471,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886786.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Glu369Lys",
"transcript": "ENST00000886783.1",
"protein_id": "ENSP00000556842.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 441,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886783.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Glu357Lys",
"transcript": "ENST00000886784.1",
"protein_id": "ENSP00000556843.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 429,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886784.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Glu278Lys",
"transcript": "ENST00000886791.1",
"protein_id": "ENSP00000556850.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 832,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886791.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.129G>A",
"hgvs_p": "p.Gln43Gln",
"transcript": "ENST00000589654.2",
"protein_id": "ENSP00000467846.1",
"transcript_support_level": 3,
"aa_start": 43,
"aa_end": null,
"aa_length": 73,
"cds_start": 129,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589654.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "n.1285G>A",
"hgvs_p": null,
"transcript": "ENST00000392846.7",
"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": "ENST00000392846.7"
},
{
"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": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "n.*236G>A",
"hgvs_p": null,
"transcript": "ENST00000592710.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000592710.1"
}
],
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"dbsnp": "rs764508037",
"frequency_reference_population": 0.00010203956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 149,
"gnomad_exomes_af": 0.00010204,
"gnomad_genomes_af": 0.000111786,
"gnomad_exomes_ac": 149,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07914406061172485,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.0734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.921,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001082.5",
"gene_symbol": "CYP4F2",
"hgnc_id": 2645,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}