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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: 19-15879771-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15879771&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15879771,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001082.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1242C>T",
"hgvs_p": "p.Ile414Ile",
"transcript": "NM_001082.5",
"protein_id": "NP_001073.3",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 520,
"cds_start": 1242,
"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": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1242C>T",
"hgvs_p": "p.Ile414Ile",
"transcript": "ENST00000221700.11",
"protein_id": "ENSP00000221700.3",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 520,
"cds_start": 1242,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1242C>T",
"hgvs_p": "p.Ile414Ile",
"transcript": "ENST00000011989.11",
"protein_id": "ENSP00000011989.8",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 520,
"cds_start": 1242,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ile446Ile",
"transcript": "ENST00000886782.1",
"protein_id": "ENSP00000556841.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 552,
"cds_start": 1338,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1242C>T",
"hgvs_p": "p.Ile414Ile",
"transcript": "ENST00000886792.1",
"protein_id": "ENSP00000556851.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 520,
"cds_start": 1242,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1242C>T",
"hgvs_p": "p.Ile414Ile",
"transcript": "ENST00000886794.1",
"protein_id": "ENSP00000556853.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 520,
"cds_start": 1242,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1242C>T",
"hgvs_p": "p.Ile414Ile",
"transcript": "ENST00000965125.1",
"protein_id": "ENSP00000635184.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 520,
"cds_start": 1242,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1236C>T",
"hgvs_p": "p.Ile412Ile",
"transcript": "ENST00000886790.1",
"protein_id": "ENSP00000556849.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 518,
"cds_start": 1236,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Ile404Ile",
"transcript": "ENST00000886789.1",
"protein_id": "ENSP00000556848.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 510,
"cds_start": 1212,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1209C>T",
"hgvs_p": "p.Ile403Ile",
"transcript": "ENST00000886788.1",
"protein_id": "ENSP00000556847.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 509,
"cds_start": 1209,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1188C>T",
"hgvs_p": "p.Ile396Ile",
"transcript": "ENST00000886793.1",
"protein_id": "ENSP00000556852.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 502,
"cds_start": 1188,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1182C>T",
"hgvs_p": "p.Ile394Ile",
"transcript": "ENST00000886787.1",
"protein_id": "ENSP00000556846.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 500,
"cds_start": 1182,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1170C>T",
"hgvs_p": "p.Ile390Ile",
"transcript": "ENST00000886785.1",
"protein_id": "ENSP00000556844.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 496,
"cds_start": 1170,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1116C>T",
"hgvs_p": "p.Ile372Ile",
"transcript": "ENST00000886781.1",
"protein_id": "ENSP00000556840.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 478,
"cds_start": 1116,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Ile335Ile",
"transcript": "ENST00000886783.1",
"protein_id": "ENSP00000556842.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 441,
"cds_start": 1005,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.969C>T",
"hgvs_p": "p.Ile323Ile",
"transcript": "ENST00000886784.1",
"protein_id": "ENSP00000556843.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 429,
"cds_start": 969,
"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": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.732C>T",
"hgvs_p": "p.Ile244Ile",
"transcript": "ENST00000886791.1",
"protein_id": "ENSP00000556850.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 350,
"cds_start": 732,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.1116-291C>T",
"hgvs_p": null,
"transcript": "ENST00000886786.1",
"protein_id": "ENSP00000556845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "c.102-343C>T",
"hgvs_p": null,
"transcript": "ENST00000589654.2",
"protein_id": "ENSP00000467846.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "n.1185C>T",
"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": false,
"consequences": [
"non_coding_transcript_exon_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": "n.705C>T",
"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"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"hgvs_c": "n.*760C>T",
"hgvs_p": null,
"transcript": "ENST00000587671.2",
"protein_id": "ENSP00000467443.2",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000587671.2"
}
],
"gene_symbol": "CYP4F2",
"gene_hgnc_id": 2645,
"dbsnp": "rs143888844",
"frequency_reference_population": 0.000045224817,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000259944,
"gnomad_genomes_af": 0.000229804,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.341,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001082.5",
"gene_symbol": "CYP4F2",
"hgnc_id": 2645,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1242C>T",
"hgvs_p": "p.Ile414Ile"
}
],
"clinvar_disease": "CYP4F2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CYP4F2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}