← 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: 15-74838171-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74838171&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74838171,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001411082.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "NM_001099436.4",
"protein_id": "NP_001092906.3",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 472,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000440863.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099436.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "ENST00000440863.7",
"protein_id": "ENSP00000400312.2",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 472,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099436.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440863.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "ENST00000569437.5",
"protein_id": "ENSP00000456051.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 470,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569437.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.1454G>A",
"hgvs_p": null,
"transcript": "ENST00000566479.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000566479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.1690G>A",
"hgvs_p": null,
"transcript": "ENST00000570276.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000570276.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Gln",
"transcript": "NM_001411082.1",
"protein_id": "NP_001398011.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 483,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411082.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Gln",
"transcript": "ENST00000568667.5",
"protein_id": "ENSP00000457853.1",
"transcript_support_level": 5,
"aa_start": 434,
"aa_end": null,
"aa_length": 483,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568667.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"transcript": "ENST00000894355.1",
"protein_id": "ENSP00000564414.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 478,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894355.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"transcript": "ENST00000894356.1",
"protein_id": "ENSP00000564415.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 478,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894356.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"transcript": "ENST00000967230.1",
"protein_id": "ENSP00000637289.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 478,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967230.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428Gln",
"transcript": "ENST00000894360.1",
"protein_id": "ENSP00000564419.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 477,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894360.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"transcript": "ENST00000894358.1",
"protein_id": "ENSP00000564417.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 476,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894358.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"transcript": "ENST00000967232.1",
"protein_id": "ENSP00000637291.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 476,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967232.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000894350.1",
"protein_id": "ENSP00000564409.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 471,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894350.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000894351.1",
"protein_id": "ENSP00000564410.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 471,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894351.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000926382.1",
"protein_id": "ENSP00000596441.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 471,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926382.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "NM_001284364.3",
"protein_id": "NP_001271293.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 470,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284364.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "ENST00000926383.1",
"protein_id": "ENSP00000596442.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 470,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926383.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000894348.1",
"protein_id": "ENSP00000564407.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 469,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894348.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000894353.1",
"protein_id": "ENSP00000564412.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 469,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894353.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000967231.1",
"protein_id": "ENSP00000637290.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 469,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967231.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "ENST00000894354.1",
"protein_id": "ENSP00000564413.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 468,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894354.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Arg412Gln",
"transcript": "ENST00000967235.1",
"protein_id": "ENSP00000637294.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 461,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967235.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Arg412Gln",
"transcript": "ENST00000967234.1",
"protein_id": "ENSP00000637293.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 459,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967234.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "ENST00000967236.1",
"protein_id": "ENSP00000637295.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 456,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967236.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Gln",
"transcript": "ENST00000894349.1",
"protein_id": "ENSP00000564408.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 452,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894349.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402Gln",
"transcript": "ENST00000894361.1",
"protein_id": "ENSP00000564420.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894361.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402Gln",
"transcript": "ENST00000926385.1",
"protein_id": "ENSP00000596444.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926385.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Gln",
"transcript": "ENST00000894352.1",
"protein_id": "ENSP00000564411.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 450,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894352.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376Gln",
"transcript": "ENST00000894359.1",
"protein_id": "ENSP00000564418.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 425,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894359.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1124G>A",
"hgvs_p": "p.Arg375Gln",
"transcript": "ENST00000894357.1",
"protein_id": "ENSP00000564416.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 424,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894357.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376Gln",
"transcript": "ENST00000967233.1",
"protein_id": "ENSP00000637292.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 423,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967233.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356Gln",
"transcript": "ENST00000926384.1",
"protein_id": "ENSP00000596443.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 405,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926384.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306Gln",
"transcript": "NM_001284365.3",
"protein_id": "NP_001271294.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 355,
"cds_start": 917,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284365.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Gln",
"transcript": "XM_005254289.3",
"protein_id": "XP_005254346.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 483,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254289.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Gln",
"transcript": "XM_017022068.2",
"protein_id": "XP_016877557.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 481,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022068.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Gln",
"transcript": "XM_047432368.1",
"protein_id": "XP_047288324.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 481,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432368.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Gly422Arg",
"transcript": "XM_047432369.1",
"protein_id": "XP_047288325.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 438,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432369.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Gly422Arg",
"transcript": "XM_047432370.1",
"protein_id": "XP_047288326.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 438,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432370.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Gly397Arg",
"transcript": "XM_047432371.1",
"protein_id": "XP_047288327.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 413,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432371.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"transcript": "XM_047432373.1",
"protein_id": "XP_047288329.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 382,
"cds_start": 998,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432373.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.1167+269G>A",
"hgvs_p": null,
"transcript": "ENST00000926386.1",
"protein_id": "ENSP00000596445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926386.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.1483G>A",
"hgvs_p": null,
"transcript": "ENST00000561725.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000561725.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.1385G>A",
"hgvs_p": null,
"transcript": "ENST00000565881.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565881.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.*936G>A",
"hgvs_p": null,
"transcript": "ENST00000566631.5",
"protein_id": "ENSP00000455395.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566631.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.95G>A",
"hgvs_p": null,
"transcript": "ENST00000567472.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567472.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.*1152G>A",
"hgvs_p": null,
"transcript": "ENST00000568210.5",
"protein_id": "ENSP00000456296.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568210.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.*1075G>A",
"hgvs_p": null,
"transcript": "ENST00000568273.5",
"protein_id": "ENSP00000454583.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568273.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.*1282G>A",
"hgvs_p": null,
"transcript": "ENST00000647587.1",
"protein_id": "ENSP00000497403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.1500G>A",
"hgvs_p": null,
"transcript": "NR_104307.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104307.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.1496G>A",
"hgvs_p": null,
"transcript": "NR_104308.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104308.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.1481G>A",
"hgvs_p": null,
"transcript": "NR_104309.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104309.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.1137G>A",
"hgvs_p": null,
"transcript": "XR_007064437.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.*936G>A",
"hgvs_p": null,
"transcript": "ENST00000566631.5",
"protein_id": "ENSP00000455395.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566631.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.*1152G>A",
"hgvs_p": null,
"transcript": "ENST00000568210.5",
"protein_id": "ENSP00000456296.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568210.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.*1075G>A",
"hgvs_p": null,
"transcript": "ENST00000568273.5",
"protein_id": "ENSP00000454583.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568273.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.*1282G>A",
"hgvs_p": null,
"transcript": "ENST00000647587.1",
"protein_id": "ENSP00000497403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "c.*209G>A",
"hgvs_p": null,
"transcript": "XM_047432372.1",
"protein_id": "XP_047288328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"hgvs_c": "n.-215G>A",
"hgvs_p": null,
"transcript": "ENST00000568718.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000568718.5"
}
],
"gene_symbol": "ULK3",
"gene_hgnc_id": 19703,
"dbsnp": "rs370060398",
"frequency_reference_population": 0.000029462815,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.0000298067,
"gnomad_genomes_af": 0.0000262795,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6326245069503784,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.1942,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.043,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001411082.1",
"gene_symbol": "ULK3",
"hgnc_id": 19703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}