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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: 16-49491276-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=49491276&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 49491276,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,stop_retained_variant",
"transcript": "ENST00000562520.1",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3878G>A",
"hgvs_p": "p.Ter1293Ter",
"transcript": "NM_001379286.1",
"protein_id": "NP_001366215.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3878,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000563137.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379286.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3878G>A",
"hgvs_p": "p.Ter1293Ter",
"transcript": "ENST00000563137.7",
"protein_id": "ENSP00000455588.3",
"transcript_support_level": 5,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3878,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001379286.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563137.7"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"stop_retained_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Ter1225Ter",
"transcript": "ENST00000562520.1",
"protein_id": "ENSP00000457664.1",
"transcript_support_level": 1,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3674,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562520.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3503G>A",
"hgvs_p": "p.Ter1168Ter",
"transcript": "ENST00000567169.5",
"protein_id": "ENSP00000455061.1",
"transcript_support_level": 1,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567169.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3854G>A",
"hgvs_p": "p.Ter1285Ter",
"transcript": "NM_015069.5",
"protein_id": "NP_055884.2",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3854,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015069.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3854G>A",
"hgvs_p": "p.Ter1285Ter",
"transcript": "ENST00000561648.5",
"protein_id": "ENSP00000455426.1",
"transcript_support_level": 5,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3854,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561648.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Ter1225Ter",
"transcript": "NM_001271620.2",
"protein_id": "NP_001258549.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3674,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271620.2"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Ter1225Ter",
"transcript": "ENST00000562871.5",
"protein_id": "ENSP00000457928.1",
"transcript_support_level": 5,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3674,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562871.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3503G>A",
"hgvs_p": "p.Ter1168Ter",
"transcript": "NM_001330533.2",
"protein_id": "NP_001317462.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330533.2"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3503G>A",
"hgvs_p": "p.Ter1168Ter",
"transcript": "ENST00000535559.5",
"protein_id": "ENSP00000442321.1",
"transcript_support_level": 2,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535559.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.4121G>A",
"hgvs_p": "p.Ter1374Ter",
"transcript": "XM_047433803.1",
"protein_id": "XP_047289759.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1373,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433803.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3947G>A",
"hgvs_p": "p.Ter1316Ter",
"transcript": "XM_047433804.1",
"protein_id": "XP_047289760.1",
"transcript_support_level": null,
"aa_start": 1316,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3947,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433804.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3926G>A",
"hgvs_p": "p.Ter1309Ter",
"transcript": "XM_047433805.1",
"protein_id": "XP_047289761.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3926,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433805.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3899G>A",
"hgvs_p": "p.Ter1300Ter",
"transcript": "XM_006721171.5",
"protein_id": "XP_006721234.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3899,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721171.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3899G>A",
"hgvs_p": "p.Ter1300Ter",
"transcript": "XM_047433806.1",
"protein_id": "XP_047289762.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3899,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433806.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3899G>A",
"hgvs_p": "p.Ter1300Ter",
"transcript": "XM_047433807.1",
"protein_id": "XP_047289763.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3899,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433807.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3887G>A",
"hgvs_p": "p.Ter1296Ter",
"transcript": "XM_047433808.1",
"protein_id": "XP_047289764.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3887,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433808.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Ter1225Ter",
"transcript": "XM_005255856.5",
"protein_id": "XP_005255913.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3674,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255856.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Ter1225Ter",
"transcript": "XM_017023078.2",
"protein_id": "XP_016878567.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3674,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023078.2"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Ter1225Ter",
"transcript": "XM_047433809.1",
"protein_id": "XP_047289765.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3674,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433809.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.3503G>A",
"hgvs_p": "p.Ter1168Ter",
"transcript": "XM_047433810.1",
"protein_id": "XP_047289766.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433810.1"
}
],
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"dbsnp": "rs1596988126",
"frequency_reference_population": 0.000002478321,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000013682,
"gnomad_genomes_af": 0.0000131391,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.2800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.497,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000562520.1",
"gene_symbol": "ZNF423",
"hgnc_id": 16762,
"effects": [
"splice_region_variant",
"stop_retained_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Ter1225Ter"
}
],
"clinvar_disease": "Nephronophthisis 14",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Nephronophthisis 14",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}