← 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: 3-27291329-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27291329&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 27291329,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000691995.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "NM_001394966.1",
"protein_id": "NP_001381895.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1115,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 8332,
"mane_select": "ENST00000691995.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "ENST00000691995.1",
"protein_id": "ENSP00000509472.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1115,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 8332,
"mane_select": "NM_001394966.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "NM_001394970.1",
"protein_id": "NP_001381899.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 8503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "NM_152534.6",
"protein_id": "NP_689747.3",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 8543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "ENST00000429845.6",
"protein_id": "ENSP00000395849.2",
"transcript_support_level": 5,
"aa_start": 513,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "NM_001394963.1",
"protein_id": "NP_001381892.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1162,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 8473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1451T>C",
"hgvs_p": "p.Leu484Ser",
"transcript": "NM_001394964.1",
"protein_id": "NP_001381893.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 1143,
"cds_start": 1451,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 8416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "NM_001394965.1",
"protein_id": "NP_001381894.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1125,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 8362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "NM_001394971.1",
"protein_id": "NP_001381900.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1125,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 8402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1451T>C",
"hgvs_p": "p.Leu484Ser",
"transcript": "NM_001394967.1",
"protein_id": "NP_001381896.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 1096,
"cds_start": 1451,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 8275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1559T>C",
"hgvs_p": "p.Leu520Ser",
"transcript": "NM_001394968.1",
"protein_id": "NP_001381897.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1559,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 8215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1451T>C",
"hgvs_p": "p.Leu484Ser",
"transcript": "NM_001394969.1",
"protein_id": "NP_001381898.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1451,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 8044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "NM_199347.4",
"protein_id": "NP_955379.2",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 712,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "ENST00000341435.9",
"protein_id": "ENSP00000343847.5",
"transcript_support_level": 2,
"aa_start": 513,
"aa_end": null,
"aa_length": 712,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.134T>C",
"hgvs_p": "p.Leu45Ser",
"transcript": "ENST00000424275.1",
"protein_id": "ENSP00000392344.1",
"transcript_support_level": 3,
"aa_start": 45,
"aa_end": null,
"aa_length": 195,
"cds_start": 134,
"cds_end": null,
"cds_length": 588,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_017005762.3",
"protein_id": "XP_016861251.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 8677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_017005763.2",
"protein_id": "XP_016861252.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 8637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_017005764.2",
"protein_id": "XP_016861253.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 8532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_017005765.2",
"protein_id": "XP_016861254.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 8482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_006712998.3",
"protein_id": "XP_006713061.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1162,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_006712999.4",
"protein_id": "XP_006713062.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1158,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 6025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_017005768.2",
"protein_id": "XP_016861257.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1126,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_006713001.4",
"protein_id": "XP_006713064.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1115,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 8372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_047447505.1",
"protein_id": "XP_047303461.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1115,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 8506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1451T>C",
"hgvs_p": "p.Leu484Ser",
"transcript": "XM_047447506.1",
"protein_id": "XP_047303462.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1451,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 8245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_047447507.1",
"protein_id": "XP_047303463.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1079,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 8264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_047447508.1",
"protein_id": "XP_047303464.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 8194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_047447509.1",
"protein_id": "XP_047303465.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 945,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 8056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_017005774.3",
"protein_id": "XP_016861263.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 713,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 17183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_047447510.1",
"protein_id": "XP_047303466.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 709,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_011533414.3",
"protein_id": "XP_011531716.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 675,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser",
"transcript": "XM_047447511.1",
"protein_id": "XP_047303467.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 663,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.1451T>C",
"hgvs_p": "p.Leu484Ser",
"transcript": "XM_047447512.1",
"protein_id": "XP_047303468.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 634,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "n.72T>C",
"hgvs_p": null,
"transcript": "ENST00000574215.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "n.1774T>C",
"hgvs_p": null,
"transcript": "XR_001740034.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"dbsnp": "rs10510592",
"frequency_reference_population": 0.2503253,
"hom_count_reference_population": 53151,
"allele_count_reference_population": 403632,
"gnomad_exomes_af": 0.251721,
"gnomad_genomes_af": 0.236931,
"gnomad_exomes_ac": 367581,
"gnomad_genomes_ac": 36051,
"gnomad_exomes_homalt": 48552,
"gnomad_genomes_homalt": 4599,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0034125149250030518,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0596,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.383,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000691995.1",
"gene_symbol": "NEK10",
"hgnc_id": 18592,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Leu513Ser"
}
],
"clinvar_disease": " 44, primary,Ciliary dyskinesia,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|Ciliary dyskinesia, primary, 44",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}