← 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: 9-128835400-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128835400&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "KYAT1-SPOUT1",
"hgnc_id": null,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001414398.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "KYAT1",
"hgnc_id": 1564,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Arg443Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001287390.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 130,
"alphamissense_prediction": null,
"alphamissense_score": 0.0809,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.058805644512176514,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_004059.5",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302586.8",
"protein_coding": true,
"protein_id": "NP_004050.3",
"strand": false,
"transcript": "NM_004059.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000302586.8",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004059.5",
"protein_coding": true,
"protein_id": "ENSP00000302227.3",
"strand": false,
"transcript": "ENST00000302586.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6970,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1324,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000651925.1",
"gene_hgnc_id": null,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Arg442Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498386.1",
"strand": false,
"transcript": "ENST00000651925.1",
"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": 2089,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000462722.5",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "n.1223A>G",
"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": "ENST00000462722.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 825,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5646,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001414398.1",
"gene_hgnc_id": null,
"gene_symbol": "KYAT1-SPOUT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401327.1",
"strand": false,
"transcript": "NM_001414398.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1327,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001287390.3",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Arg443Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274319.1",
"strand": false,
"transcript": "NM_001287390.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1327,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001352994.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Arg443Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339923.1",
"strand": false,
"transcript": "NM_001352994.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1327,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000436267.7",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Arg443Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399415.2",
"strand": false,
"transcript": "ENST00000436267.7",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1324,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001352995.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Arg442Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339924.1",
"strand": false,
"transcript": "NM_001352995.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1324,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001352996.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Arg442Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339925.1",
"strand": false,
"transcript": "NM_001352996.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1147,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001352997.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Arg383Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339926.1",
"strand": false,
"transcript": "NM_001352997.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1147,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001352998.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Arg383Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339927.1",
"strand": false,
"transcript": "NM_001352998.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1078,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896302.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1078A>G",
"hgvs_p": "p.Arg360Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566361.1",
"strand": false,
"transcript": "ENST00000896302.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1078,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896303.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1078A>G",
"hgvs_p": "p.Arg360Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566362.1",
"strand": false,
"transcript": "ENST00000896303.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1078,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896306.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1078A>G",
"hgvs_p": "p.Arg360Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566365.1",
"strand": false,
"transcript": "ENST00000896306.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1913,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1078,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964593.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1078A>G",
"hgvs_p": "p.Arg360Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634652.1",
"strand": false,
"transcript": "ENST00000964593.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001122671.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116143.1",
"strand": false,
"transcript": "NM_001122671.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001352988.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339917.1",
"strand": false,
"transcript": "NM_001352988.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001352989.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339918.1",
"strand": false,
"transcript": "NM_001352989.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001352990.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339919.1",
"strand": false,
"transcript": "NM_001352990.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001352991.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339920.1",
"strand": false,
"transcript": "NM_001352991.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001352992.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339921.1",
"strand": false,
"transcript": "NM_001352992.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001352993.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339922.1",
"strand": false,
"transcript": "NM_001352993.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896293.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566352.1",
"strand": false,
"transcript": "ENST00000896293.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896295.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566354.1",
"strand": false,
"transcript": "ENST00000896295.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2181,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896296.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566355.1",
"strand": false,
"transcript": "ENST00000896296.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000896297.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566356.1",
"strand": false,
"transcript": "ENST00000896297.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1969,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896298.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566357.1",
"strand": false,
"transcript": "ENST00000896298.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896299.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566358.1",
"strand": false,
"transcript": "ENST00000896299.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896300.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566359.1",
"strand": false,
"transcript": "ENST00000896300.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896301.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566360.1",
"strand": false,
"transcript": "ENST00000896301.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896304.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566363.1",
"strand": false,
"transcript": "ENST00000896304.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896305.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566364.1",
"strand": false,
"transcript": "ENST00000896305.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896307.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566366.1",
"strand": false,
"transcript": "ENST00000896307.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896308.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566367.1",
"strand": false,
"transcript": "ENST00000896308.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896309.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566368.1",
"strand": false,
"transcript": "ENST00000896309.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 2202,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896310.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566369.1",
"strand": false,
"transcript": "ENST00000896310.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000929024.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599083.1",
"strand": false,
"transcript": "ENST00000929024.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000929025.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599084.1",
"strand": false,
"transcript": "ENST00000929025.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1256,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000929026.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599085.1",
"strand": false,
"transcript": "ENST00000929026.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000929027.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599086.1",
"strand": false,
"transcript": "ENST00000929027.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964594.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634653.1",
"strand": false,
"transcript": "ENST00000964594.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000964596.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634655.1",
"strand": false,
"transcript": "ENST00000964596.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000964600.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634659.1",
"strand": false,
"transcript": "ENST00000964600.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964601.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634660.1",
"strand": false,
"transcript": "ENST00000964601.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964602.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634661.1",
"strand": false,
"transcript": "ENST00000964602.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964603.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634662.1",
"strand": false,
"transcript": "ENST00000964603.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964607.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634666.1",
"strand": false,
"transcript": "ENST00000964607.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964608.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634667.1",
"strand": false,
"transcript": "ENST00000964608.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000964609.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634668.1",
"strand": false,
"transcript": "ENST00000964609.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964610.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634669.1",
"strand": false,
"transcript": "ENST00000964610.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964595.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634654.1",
"strand": false,
"transcript": "ENST00000964595.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1045,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964604.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Arg349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634663.1",
"strand": false,
"transcript": "ENST00000964604.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1179,
"cds_start": 955,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000929023.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Arg319Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599082.1",
"strand": false,
"transcript": "ENST00000929023.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1179,
"cds_start": 955,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964597.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Arg319Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634656.1",
"strand": false,
"transcript": "ENST00000964597.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1140,
"cds_start": 916,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964598.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.916A>G",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634657.1",
"strand": false,
"transcript": "ENST00000964598.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1140,
"cds_start": 916,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964599.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.916A>G",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634658.1",
"strand": false,
"transcript": "ENST00000964599.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1140,
"cds_start": 916,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964605.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.916A>G",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634664.1",
"strand": false,
"transcript": "ENST00000964605.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1119,
"cds_start": 895,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001122672.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.895A>G",
"hgvs_p": "p.Arg299Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116144.1",
"strand": false,
"transcript": "NM_001122672.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1119,
"cds_start": 895,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000320665.10",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.895A>G",
"hgvs_p": "p.Arg299Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317342.6",
"strand": false,
"transcript": "ENST00000320665.10",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1101,
"cds_start": 877,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964606.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Arg293Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634665.1",
"strand": false,
"transcript": "ENST00000964606.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2330,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1095,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001352999.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Arg291Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339928.1",
"strand": false,
"transcript": "NM_001352999.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 350,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1053,
"cds_start": 829,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896294.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "c.829A>G",
"hgvs_p": "p.Arg277Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566353.1",
"strand": false,
"transcript": "ENST00000896294.1",
"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": 256,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000466418.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "n.34A>G",
"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": "ENST00000466418.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000483599.5",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "n.1805A>G",
"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": "ENST00000483599.5",
"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": 2003,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_109829.3",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "n.1137A>G",
"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": "NR_109829.3",
"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": 2659,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_148224.2",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "n.1105A>G",
"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": "NR_148224.2",
"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": 2500,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_148225.1",
"gene_hgnc_id": 1564,
"gene_symbol": "KYAT1",
"hgvs_c": "n.1805A>G",
"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": "NR_148225.1",
"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": 6188,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_182310.1",
"gene_hgnc_id": null,
"gene_symbol": "KYAT1-SPOUT1",
"hgvs_c": "n.1137A>G",
"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": "NR_182310.1",
"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": 6156,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_182311.1",
"gene_hgnc_id": null,
"gene_symbol": "KYAT1-SPOUT1",
"hgvs_c": "n.1105A>G",
"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": "NR_182311.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146402491",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.00008054423,
"gene_hgnc_id": null,
"gene_symbol": "KYAT1-SPOUT1",
"gnomad_exomes_ac": 115,
"gnomad_exomes_af": 0.0000786733,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 15,
"gnomad_genomes_af": 0.0000985041,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.609,
"pos": 128835400,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.162,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001414398.1"
}
]
}