← Back to variant description
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: 3-27284626-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27284626&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NEK10",
"hgnc_id": 18592,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"inheritance_mode": "AD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_152534.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9571,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8731579780578613,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8332,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001394966.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000691995.1",
"protein_coding": true,
"protein_id": "NP_001381895.1",
"strand": false,
"transcript": "NM_001394966.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8332,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000691995.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001394966.1",
"protein_coding": true,
"protein_id": "ENSP00000509472.1",
"strand": false,
"transcript": "ENST00000691995.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8503,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 3519,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001394970.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381899.1",
"strand": false,
"transcript": "NM_001394970.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8543,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 3519,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_152534.6",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689747.3",
"strand": false,
"transcript": "NM_152534.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 3519,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000429845.6",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395849.2",
"strand": false,
"transcript": "ENST00000429845.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8473,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 3489,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001394963.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381892.1",
"strand": false,
"transcript": "NM_001394963.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": 2206,
"cds_end": null,
"cds_length": 3489,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000936071.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606130.1",
"strand": false,
"transcript": "ENST00000936071.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "G",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8416,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 3432,
"cds_start": 1903,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001394964.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Gly635Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381893.1",
"strand": false,
"transcript": "NM_001394964.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8362,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 3378,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001394965.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381894.1",
"strand": false,
"transcript": "NM_001394965.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8402,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 3378,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001394971.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381900.1",
"strand": false,
"transcript": "NM_001394971.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3899,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000898306.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568365.1",
"strand": false,
"transcript": "ENST00000898306.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1096,
"aa_ref": "G",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8275,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 3291,
"cds_start": 1903,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001394967.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Gly635Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381896.1",
"strand": false,
"transcript": "NM_001394967.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "G",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8215,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 3231,
"cds_start": 1873,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001394968.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1873G>A",
"hgvs_p": "p.Gly625Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381897.1",
"strand": false,
"transcript": "NM_001394968.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "G",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4654,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 3210,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000945408.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Gly618Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615467.1",
"strand": false,
"transcript": "ENST00000945408.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8044,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1903,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001394969.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Gly635Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381898.1",
"strand": false,
"transcript": "NM_001394969.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_199347.4",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955379.2",
"strand": false,
"transcript": "NM_199347.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2638,
"cdna_start": 2264,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000341435.9",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343847.5",
"strand": false,
"transcript": "ENST00000341435.9",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 743,
"cdna_start": 450,
"cds_end": null,
"cds_length": 588,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000424275.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Gly150Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392344.1",
"strand": false,
"transcript": "ENST00000424275.1",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 165,
"aa_ref": "G",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 652,
"cdna_start": 359,
"cds_end": null,
"cds_length": 498,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000435584.5",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412651.1",
"strand": false,
"transcript": "ENST00000435584.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8677,
"cdna_start": 2360,
"cds_end": null,
"cds_length": 3519,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017005762.3",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861251.1",
"strand": false,
"transcript": "XM_017005762.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8637,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 3519,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017005763.2",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861252.1",
"strand": false,
"transcript": "XM_017005763.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8532,
"cdna_start": 2215,
"cds_end": null,
"cds_length": 3519,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017005764.2",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861253.1",
"strand": false,
"transcript": "XM_017005764.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8482,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 3519,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017005765.2",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861254.1",
"strand": false,
"transcript": "XM_017005765.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 3489,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_006712998.3",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713061.1",
"strand": false,
"transcript": "XM_006712998.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6025,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 3477,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_006712999.4",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713062.1",
"strand": false,
"transcript": "XM_006712999.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "G",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8405,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 3381,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017005768.2",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Gly618Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861257.1",
"strand": false,
"transcript": "XM_017005768.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8372,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_006713001.4",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713064.1",
"strand": false,
"transcript": "XM_006713001.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8506,
"cdna_start": 2360,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047447505.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303461.1",
"strand": false,
"transcript": "XM_047447505.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "G",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8245,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 3261,
"cds_start": 1903,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047447506.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Gly635Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303462.1",
"strand": false,
"transcript": "XM_047447506.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1079,
"aa_ref": "G",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8264,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 3240,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047447507.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Gly618Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303463.1",
"strand": false,
"transcript": "XM_047447507.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "G",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8194,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 3210,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047447508.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Gly618Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303464.1",
"strand": false,
"transcript": "XM_047447508.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 945,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8056,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 2838,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047447509.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303465.1",
"strand": false,
"transcript": "XM_047447509.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 713,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17183,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017005774.3",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861263.1",
"strand": false,
"transcript": "XM_017005774.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047447510.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303466.1",
"strand": false,
"transcript": "XM_047447510.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 675,
"aa_ref": "G",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011533414.3",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Gly664Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531716.1",
"strand": false,
"transcript": "XM_011533414.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 663,
"aa_ref": "G",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047447511.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Gly618Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303467.1",
"strand": false,
"transcript": "XM_047447511.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 634,
"aa_ref": "G",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047447512.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "c.1765G>A",
"hgvs_p": "p.Gly589Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303468.1",
"strand": false,
"transcript": "XM_047447512.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000474938.1",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "n.141G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000474938.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000574215.5",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "n.386G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000574215.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XR_001740034.2",
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"hgvs_c": "n.2226G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001740034.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2042441123",
"effect": "missense_variant",
"frequency_reference_population": 6.917141e-7,
"gene_hgnc_id": 18592,
"gene_symbol": "NEK10",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.91714e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.407,
"pos": 27284626,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.417,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_152534.6"
}
]
}