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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: 5-814779-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=814779&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 814779,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001393492.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Pro388Leu",
"transcript": "NM_024786.3",
"protein_id": "NP_079062.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 412,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283441.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024786.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Pro388Leu",
"transcript": "ENST00000283441.13",
"protein_id": "ENSP00000283441.8",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 412,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024786.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283441.13"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Pro443Leu",
"transcript": "NM_001393492.1",
"protein_id": "NP_001380421.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 467,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393492.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Pro486Leu",
"transcript": "XM_024446209.2",
"protein_id": "XP_024301977.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 510,
"cds_start": 1457,
"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": "XM_024446209.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Pro486Leu",
"transcript": "XM_047417746.1",
"protein_id": "XP_047273702.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 510,
"cds_start": 1457,
"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": "XM_047417746.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Pro486Leu",
"transcript": "XM_047417747.1",
"protein_id": "XP_047273703.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 510,
"cds_start": 1457,
"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": "XM_047417747.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Pro443Leu",
"transcript": "XM_024446210.2",
"protein_id": "XP_024301978.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 467,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446210.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Pro431Leu",
"transcript": "XM_047417749.1",
"protein_id": "XP_047273705.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 455,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417749.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Pro388Leu",
"transcript": "XM_024446212.2",
"protein_id": "XP_024301980.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 412,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446212.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Pro225Leu",
"transcript": "XM_047417758.1",
"protein_id": "XP_047273714.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 249,
"cds_start": 674,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417758.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Pro218Leu",
"transcript": "XM_047417759.1",
"protein_id": "XP_047273715.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 242,
"cds_start": 653,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417759.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Pro218Leu",
"transcript": "XM_047417760.1",
"protein_id": "XP_047273716.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 242,
"cds_start": 653,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417760.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Pro218Leu",
"transcript": "XM_047417761.1",
"protein_id": "XP_047273717.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 242,
"cds_start": 653,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417761.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Pro218Leu",
"transcript": "XM_047417762.1",
"protein_id": "XP_047273718.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 242,
"cds_start": 653,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417762.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "c.*6C>T",
"hgvs_p": null,
"transcript": "XM_047417748.1",
"protein_id": "XP_047273704.1",
"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": "XM_047417748.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "n.2865C>T",
"hgvs_p": null,
"transcript": "ENST00000503758.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000503758.6"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "n.*785C>T",
"hgvs_p": null,
"transcript": "ENST00000507800.1",
"protein_id": "ENSP00000423817.1",
"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": "ENST00000507800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"hgvs_c": "n.*785C>T",
"hgvs_p": null,
"transcript": "ENST00000507800.1",
"protein_id": "ENSP00000423817.1",
"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": "ENST00000507800.1"
}
],
"gene_symbol": "ZDHHC11",
"gene_hgnc_id": 19158,
"dbsnp": "rs778647556",
"frequency_reference_population": 0.000016059304,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000156547,
"gnomad_genomes_af": 0.0000198148,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07230272889137268,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.09,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.406,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001393492.1",
"gene_symbol": "ZDHHC11",
"hgnc_id": 19158,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Pro443Leu"
}
],
"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
}