← 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: 18-58391536-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58391536&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 58391536,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000400345.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2802G>A",
"hgvs_p": "p.Glu934Glu",
"transcript": "NM_001144967.3",
"protein_id": "NP_001138439.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 975,
"cds_start": 2802,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 8633,
"mane_select": "ENST00000400345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2802G>A",
"hgvs_p": "p.Glu934Glu",
"transcript": "ENST00000400345.8",
"protein_id": "ENSP00000383199.2",
"transcript_support_level": 1,
"aa_start": 934,
"aa_end": null,
"aa_length": 975,
"cds_start": 2802,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 8633,
"mane_select": "NM_001144967.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2778G>A",
"hgvs_p": "p.Glu926Glu",
"transcript": "ENST00000357895.9",
"protein_id": "ENSP00000350569.4",
"transcript_support_level": 1,
"aa_start": 926,
"aa_end": null,
"aa_length": 967,
"cds_start": 2778,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2981,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2742G>A",
"hgvs_p": "p.Glu914Glu",
"transcript": "ENST00000382850.8",
"protein_id": "ENSP00000372301.3",
"transcript_support_level": 1,
"aa_start": 914,
"aa_end": null,
"aa_length": 955,
"cds_start": 2742,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2855,
"cdna_end": null,
"cdna_length": 8251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Glu906Glu",
"transcript": "ENST00000586263.5",
"protein_id": "ENSP00000468546.1",
"transcript_support_level": 1,
"aa_start": 906,
"aa_end": null,
"aa_length": 947,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2917,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2610G>A",
"hgvs_p": "p.Glu870Glu",
"transcript": "ENST00000356462.10",
"protein_id": "ENSP00000348847.5",
"transcript_support_level": 1,
"aa_start": 870,
"aa_end": null,
"aa_length": 911,
"cds_start": 2610,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "ENST00000431212.6",
"protein_id": "ENSP00000389406.1",
"transcript_support_level": 1,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2903,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "ENST00000456986.5",
"protein_id": "ENSP00000411947.1",
"transcript_support_level": 1,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 8436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "ENST00000435432.6",
"protein_id": "ENSP00000393395.1",
"transcript_support_level": 1,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "ENST00000456173.6",
"protein_id": "ENSP00000405440.1",
"transcript_support_level": 1,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.3639G>A",
"hgvs_p": "p.Glu1213Glu",
"transcript": "NM_001437337.1",
"protein_id": "NP_001424266.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3639,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 3764,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.3639G>A",
"hgvs_p": "p.Glu1213Glu",
"transcript": "ENST00000635997.1",
"protein_id": "ENSP00000490696.1",
"transcript_support_level": 5,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3639,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 3840,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2778G>A",
"hgvs_p": "p.Glu926Glu",
"transcript": "NM_001144968.2",
"protein_id": "NP_001138440.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 967,
"cds_start": 2778,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 8390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2742G>A",
"hgvs_p": "p.Glu914Glu",
"transcript": "NM_015277.6",
"protein_id": "NP_056092.2",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 955,
"cds_start": 2742,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 8573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2721G>A",
"hgvs_p": "p.Glu907Glu",
"transcript": "ENST00000675147.1",
"protein_id": "ENSP00000501840.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 948,
"cds_start": 2721,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 3369,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Glu906Glu",
"transcript": "NM_001144969.2",
"protein_id": "NP_001138441.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 947,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 8330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2703G>A",
"hgvs_p": "p.Glu901Glu",
"transcript": "ENST00000676223.1",
"protein_id": "ENSP00000502361.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 942,
"cds_start": 2703,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2667G>A",
"hgvs_p": "p.Glu889Glu",
"transcript": "ENST00000675221.1",
"protein_id": "ENSP00000502761.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 930,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2610G>A",
"hgvs_p": "p.Glu870Glu",
"transcript": "NM_001243960.2",
"protein_id": "NP_001230889.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 911,
"cds_start": 2610,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3045,
"cdna_end": null,
"cdna_length": 8441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2490G>A",
"hgvs_p": "p.Glu830Glu",
"transcript": "ENST00000256830.13",
"protein_id": "ENSP00000256830.8",
"transcript_support_level": 5,
"aa_start": 830,
"aa_end": null,
"aa_length": 871,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2490,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2466G>A",
"hgvs_p": "p.Glu822Glu",
"transcript": "ENST00000676024.1",
"protein_id": "ENSP00000502105.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 863,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2675,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "NM_001144964.1",
"protein_id": "NP_001138436.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 8436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "NM_001144965.2",
"protein_id": "NP_001138437.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 3004,
"cdna_end": null,
"cdna_length": 8400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "NM_001144966.3",
"protein_id": "NP_001138438.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2867,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "NM_001144970.3",
"protein_id": "NP_001138442.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "NM_001144971.2",
"protein_id": "NP_001138443.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 8418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "ENST00000674517.1",
"protein_id": "ENSP00000501665.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "ENST00000675502.1",
"protein_id": "ENSP00000502428.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2866,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "ENST00000675801.1",
"protein_id": "ENSP00000502688.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 5006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "ENST00000675865.1",
"protein_id": "ENSP00000502003.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2803,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "ENST00000676226.1",
"protein_id": "ENSP00000502325.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2878,
"cdna_end": null,
"cdna_length": 4889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1794G>A",
"hgvs_p": "p.Glu598Glu",
"transcript": "ENST00000587881.1",
"protein_id": "ENSP00000468332.1",
"transcript_support_level": 5,
"aa_start": 598,
"aa_end": null,
"aa_length": 639,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Glu577Glu",
"transcript": "ENST00000679791.1",
"protein_id": "ENSP00000505573.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 618,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 7127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1059G>A",
"hgvs_p": "p.Glu353Glu",
"transcript": "ENST00000675101.1",
"protein_id": "ENSP00000502133.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Glu65Glu",
"transcript": "ENST00000589054.5",
"protein_id": "ENSP00000465669.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 106,
"cds_start": 195,
"cds_end": null,
"cds_length": 321,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.3693G>A",
"hgvs_p": "p.Glu1231Glu",
"transcript": "XM_005266658.5",
"protein_id": "XP_005266715.3",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3693,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3818,
"cdna_end": null,
"cdna_length": 9215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.3633G>A",
"hgvs_p": "p.Glu1211Glu",
"transcript": "XM_006722421.5",
"protein_id": "XP_006722484.3",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1252,
"cds_start": 3633,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 3758,
"cdna_end": null,
"cdna_length": 9155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.3579G>A",
"hgvs_p": "p.Glu1193Glu",
"transcript": "XM_005266663.5",
"protein_id": "XP_005266720.3",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3579,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3704,
"cdna_end": null,
"cdna_length": 9101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.3381G>A",
"hgvs_p": "p.Glu1127Glu",
"transcript": "XM_017025676.2",
"protein_id": "XP_016881165.2",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3381,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3506,
"cdna_end": null,
"cdna_length": 8903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.3327G>A",
"hgvs_p": "p.Glu1109Glu",
"transcript": "XM_017025677.2",
"protein_id": "XP_016881166.2",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3327,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3452,
"cdna_end": null,
"cdna_length": 8849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.3183G>A",
"hgvs_p": "p.Glu1061Glu",
"transcript": "XM_006722424.4",
"protein_id": "XP_006722487.3",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1102,
"cds_start": 3183,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 8705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.3129G>A",
"hgvs_p": "p.Glu1043Glu",
"transcript": "XM_006722425.4",
"protein_id": "XP_006722488.3",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3129,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3254,
"cdna_end": null,
"cdna_length": 8651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2934G>A",
"hgvs_p": "p.Glu978Glu",
"transcript": "XM_006722426.5",
"protein_id": "XP_006722489.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 3369,
"cdna_end": null,
"cdna_length": 8766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2910G>A",
"hgvs_p": "p.Glu970Glu",
"transcript": "XM_011525887.4",
"protein_id": "XP_011524189.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 8523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2880G>A",
"hgvs_p": "p.Glu960Glu",
"transcript": "XM_047437406.1",
"protein_id": "XP_047293362.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2880,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 3315,
"cdna_end": null,
"cdna_length": 8712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2874G>A",
"hgvs_p": "p.Glu958Glu",
"transcript": "XM_047437407.1",
"protein_id": "XP_047293363.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 999,
"cds_start": 2874,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 8706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2856G>A",
"hgvs_p": "p.Glu952Glu",
"transcript": "XM_006722428.5",
"protein_id": "XP_006722491.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 993,
"cds_start": 2856,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 3291,
"cdna_end": null,
"cdna_length": 8688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2820G>A",
"hgvs_p": "p.Glu940Glu",
"transcript": "XM_047437408.1",
"protein_id": "XP_047293364.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 981,
"cds_start": 2820,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2817G>A",
"hgvs_p": "p.Glu939Glu",
"transcript": "XM_047437409.1",
"protein_id": "XP_047293365.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 980,
"cds_start": 2817,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 9735,
"cdna_end": null,
"cdna_length": 15132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2796G>A",
"hgvs_p": "p.Glu932Glu",
"transcript": "XM_017025678.3",
"protein_id": "XP_016881167.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 973,
"cds_start": 2796,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 8628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2757G>A",
"hgvs_p": "p.Glu919Glu",
"transcript": "XM_047437410.1",
"protein_id": "XP_047293366.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 960,
"cds_start": 2757,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 9675,
"cdna_end": null,
"cdna_length": 15072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Glu831Glu",
"transcript": "XM_006722430.5",
"protein_id": "XP_006722493.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 872,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 8460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Glu831Glu",
"transcript": "XM_024451134.2",
"protein_id": "XP_024306902.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 872,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 8514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Glu831Glu",
"transcript": "XM_047437414.1",
"protein_id": "XP_047293370.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 872,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3058,
"cdna_end": null,
"cdna_length": 8455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Glu831Glu",
"transcript": "XM_047437415.1",
"protein_id": "XP_047293371.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 872,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3943,
"cdna_end": null,
"cdna_length": 9340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Glu831Glu",
"transcript": "XM_047437416.1",
"protein_id": "XP_047293372.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 872,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3924,
"cdna_end": null,
"cdna_length": 9321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "XM_017025679.3",
"protein_id": "XP_016881168.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 8406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "XM_024451129.2",
"protein_id": "XP_024306897.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2917,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "XM_047437403.1",
"protein_id": "XP_047293359.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 8169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "XM_047437404.1",
"protein_id": "XP_047293360.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2839,
"cdna_end": null,
"cdna_length": 8236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "XM_047437417.1",
"protein_id": "XP_047293373.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 8244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "XM_047437418.1",
"protein_id": "XP_047293374.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 8283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Glu813Glu",
"transcript": "XM_047437419.1",
"protein_id": "XP_047293375.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 854,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2925,
"cdna_end": null,
"cdna_length": 8322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2433G>A",
"hgvs_p": "p.Glu811Glu",
"transcript": "XM_047437420.1",
"protein_id": "XP_047293376.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 852,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 8277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "XM_024451131.2",
"protein_id": "XP_024306899.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2779,
"cdna_end": null,
"cdna_length": 8176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "XM_024451135.2",
"protein_id": "XP_024306903.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 8223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "XM_024451136.2",
"protein_id": "XP_024306904.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2787,
"cdna_end": null,
"cdna_length": 8184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "XM_047437402.1",
"protein_id": "XP_047293358.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 8254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2379G>A",
"hgvs_p": "p.Glu793Glu",
"transcript": "XM_047437405.1",
"protein_id": "XP_047293361.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 834,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 8109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2292G>A",
"hgvs_p": "p.Glu764Glu",
"transcript": "XM_047437421.1",
"protein_id": "XP_047293377.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 805,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 8124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Glu709Glu",
"transcript": "XM_047437411.1",
"protein_id": "XP_047293367.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 750,
"cds_start": 2127,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 7917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Glu709Glu",
"transcript": "XM_047437412.1",
"protein_id": "XP_047293368.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 750,
"cds_start": 2127,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2442,
"cdna_end": null,
"cdna_length": 7839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Glu643Glu",
"transcript": "XM_017025681.3",
"protein_id": "XP_016881170.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 684,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 7896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Glu643Glu",
"transcript": "XM_047437413.1",
"protein_id": "XP_047293369.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 684,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.1629G>A",
"hgvs_p": null,
"transcript": "ENST00000588712.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.729G>A",
"hgvs_p": null,
"transcript": "ENST00000590506.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.3051G>A",
"hgvs_p": null,
"transcript": "ENST00000592097.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.2882G>A",
"hgvs_p": null,
"transcript": "ENST00000674636.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.*3248G>A",
"hgvs_p": null,
"transcript": "ENST00000674845.1",
"protein_id": "ENSP00000502309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.2540G>A",
"hgvs_p": null,
"transcript": "ENST00000674856.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.2235G>A",
"hgvs_p": null,
"transcript": "ENST00000674921.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.508G>A",
"hgvs_p": null,
"transcript": "ENST00000675244.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.2606G>A",
"hgvs_p": null,
"transcript": "ENST00000675434.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.845G>A",
"hgvs_p": null,
"transcript": "ENST00000675699.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.104G>A",
"hgvs_p": null,
"transcript": "ENST00000676301.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "n.*3248G>A",
"hgvs_p": null,
"transcript": "ENST00000674845.1",
"protein_id": "ENSP00000502309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"dbsnp": "rs115364125",
"frequency_reference_population": 0.0008699008,
"hom_count_reference_population": 11,
"allele_count_reference_population": 1375,
"gnomad_exomes_af": 0.000454388,
"gnomad_genomes_af": 0.00476553,
"gnomad_exomes_ac": 649,
"gnomad_genomes_ac": 726,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 9,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.872,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000400345.8",
"gene_symbol": "NEDD4L",
"hgnc_id": 7728,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2802G>A",
"hgvs_p": "p.Glu934Glu"
}
],
"clinvar_disease": "Periventricular nodular heterotopia 7,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Periventricular nodular heterotopia 7",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}