← 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: 16-119150-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=119150&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 119150,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001077350.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "NM_001077350.3",
"protein_id": "NP_001070818.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": "ENST00000611875.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077350.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000611875.5",
"protein_id": "ENSP00000478273.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": "NM_001077350.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611875.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000399953.7",
"protein_id": "ENSP00000382834.4",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399953.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.189-6375A>G",
"hgvs_p": null,
"transcript": "ENST00000621703.4",
"protein_id": "ENSP00000477801.1",
"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": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000621703.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"transcript": "ENST00000882156.1",
"protein_id": "ENSP00000552215.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 608,
"cds_start": 411,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882156.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"transcript": "ENST00000882158.1",
"protein_id": "ENSP00000552217.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 608,
"cds_start": 411,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882158.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"transcript": "ENST00000882173.1",
"protein_id": "ENSP00000552232.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 608,
"cds_start": 411,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882173.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"transcript": "ENST00000882176.1",
"protein_id": "ENSP00000552235.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 608,
"cds_start": 411,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882176.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Thr111Thr",
"transcript": "ENST00000882137.1",
"protein_id": "ENSP00000552196.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 582,
"cds_start": 333,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882137.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Thr111Thr",
"transcript": "ENST00000882150.1",
"protein_id": "ENSP00000552209.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 582,
"cds_start": 333,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 2188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882150.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Thr111Thr",
"transcript": "ENST00000882169.1",
"protein_id": "ENSP00000552228.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 582,
"cds_start": 333,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882169.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Thr111Thr",
"transcript": "ENST00000882149.1",
"protein_id": "ENSP00000552208.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 579,
"cds_start": 333,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882149.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882160.1",
"protein_id": "ENSP00000552219.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 575,
"cds_start": 294,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882160.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882131.1",
"protein_id": "ENSP00000552190.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882131.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882133.1",
"protein_id": "ENSP00000552192.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882133.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882134.1",
"protein_id": "ENSP00000552193.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882134.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882135.1",
"protein_id": "ENSP00000552194.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882135.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882136.1",
"protein_id": "ENSP00000552195.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882136.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882139.1",
"protein_id": "ENSP00000552198.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882139.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882141.1",
"protein_id": "ENSP00000552200.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882141.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882142.1",
"protein_id": "ENSP00000552201.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882142.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882148.1",
"protein_id": "ENSP00000552207.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882148.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882152.1",
"protein_id": "ENSP00000552211.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882152.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882162.1",
"protein_id": "ENSP00000552221.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882162.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882163.1",
"protein_id": "ENSP00000552222.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882163.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882168.1",
"protein_id": "ENSP00000552227.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882168.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882170.1",
"protein_id": "ENSP00000552229.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882170.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921446.1",
"protein_id": "ENSP00000591505.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 569,
"cds_start": 294,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921446.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882153.1",
"protein_id": "ENSP00000552212.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 560,
"cds_start": 294,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882153.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882171.1",
"protein_id": "ENSP00000552230.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 560,
"cds_start": 294,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882171.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Thr111Thr",
"transcript": "ENST00000882138.1",
"protein_id": "ENSP00000552197.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 557,
"cds_start": 333,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882138.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Thr111Thr",
"transcript": "ENST00000882155.1",
"protein_id": "ENSP00000552214.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 557,
"cds_start": 333,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882155.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882159.1",
"protein_id": "ENSP00000552218.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 557,
"cds_start": 294,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882159.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Thr111Thr",
"transcript": "ENST00000882172.1",
"protein_id": "ENSP00000552231.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 557,
"cds_start": 333,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882172.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921454.1",
"protein_id": "ENSP00000591513.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 557,
"cds_start": 294,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921454.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882145.1",
"protein_id": "ENSP00000552204.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 551,
"cds_start": 294,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882145.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882161.1",
"protein_id": "ENSP00000552220.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 551,
"cds_start": 294,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882161.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882165.1",
"protein_id": "ENSP00000552224.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 551,
"cds_start": 294,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882165.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882178.1",
"protein_id": "ENSP00000552237.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 551,
"cds_start": 294,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882178.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000956230.1",
"protein_id": "ENSP00000626289.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 551,
"cds_start": 294,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956230.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "NM_001243248.2",
"protein_id": "NP_001230177.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243248.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "NM_001243249.2",
"protein_id": "NP_001230178.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243249.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882130.1",
"protein_id": "ENSP00000552189.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882130.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882132.1",
"protein_id": "ENSP00000552191.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882132.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882146.1",
"protein_id": "ENSP00000552205.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882146.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882147.1",
"protein_id": "ENSP00000552206.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882147.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882164.1",
"protein_id": "ENSP00000552223.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882164.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882166.1",
"protein_id": "ENSP00000552225.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882166.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882167.1",
"protein_id": "ENSP00000552226.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882167.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921444.1",
"protein_id": "ENSP00000591503.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921444.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921445.1",
"protein_id": "ENSP00000591504.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921445.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921447.1",
"protein_id": "ENSP00000591506.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921447.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921448.1",
"protein_id": "ENSP00000591507.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921448.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000956229.1",
"protein_id": "ENSP00000626288.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956229.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000956231.1",
"protein_id": "ENSP00000626290.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 544,
"cds_start": 294,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956231.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921451.1",
"protein_id": "ENSP00000591510.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 532,
"cds_start": 294,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921451.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882154.1",
"protein_id": "ENSP00000552213.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 526,
"cds_start": 294,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882154.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921453.1",
"protein_id": "ENSP00000591512.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 526,
"cds_start": 294,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921453.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882151.1",
"protein_id": "ENSP00000552210.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 523,
"cds_start": 294,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882151.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.60A>G",
"hgvs_p": "p.Thr20Thr",
"transcript": "NM_001243247.2",
"protein_id": "NP_001230176.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 491,
"cds_start": 60,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243247.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882144.1",
"protein_id": "ENSP00000552203.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 490,
"cds_start": 294,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882144.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882174.1",
"protein_id": "ENSP00000552233.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 490,
"cds_start": 294,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882174.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921450.1",
"protein_id": "ENSP00000591509.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 490,
"cds_start": 294,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921450.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000882143.1",
"protein_id": "ENSP00000552202.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 465,
"cds_start": 294,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882143.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr",
"transcript": "ENST00000921449.1",
"protein_id": "ENSP00000591508.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 465,
"cds_start": 294,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921449.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.60A>G",
"hgvs_p": "p.Thr20Thr",
"transcript": "ENST00000468260.5",
"protein_id": "ENSP00000477764.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 200,
"cds_start": 60,
"cds_end": null,
"cds_length": 605,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468260.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Thr111Thr",
"transcript": "ENST00000419636.1",
"protein_id": "ENSP00000399894.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 181,
"cds_start": 333,
"cds_end": null,
"cds_length": 548,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419636.1"
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.37-6375A>G",
"hgvs_p": null,
"transcript": "ENST00000882140.1",
"protein_id": "ENSP00000552199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882140.1"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.37-6375A>G",
"hgvs_p": null,
"transcript": "ENST00000882157.1",
"protein_id": "ENSP00000552216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882157.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.37-6375A>G",
"hgvs_p": null,
"transcript": "ENST00000882177.1",
"protein_id": "ENSP00000552236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882177.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.37-6375A>G",
"hgvs_p": null,
"transcript": "ENST00000882175.1",
"protein_id": "ENSP00000552234.1",
"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": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882175.1"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.-144-6375A>G",
"hgvs_p": null,
"transcript": "NM_001039476.3",
"protein_id": "NP_001034565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039476.3"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.37-6375A>G",
"hgvs_p": null,
"transcript": "ENST00000921452.1",
"protein_id": "ENSP00000591511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.*170A>G",
"hgvs_p": null,
"transcript": "ENST00000456528.5",
"protein_id": "ENSP00000401529.1",
"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": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456528.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.*35A>G",
"hgvs_p": null,
"transcript": "ENST00000457916.5",
"protein_id": "ENSP00000405942.1",
"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": 936,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457916.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.158A>G",
"hgvs_p": null,
"transcript": "ENST00000473674.5",
"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": 855,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000473674.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.*35A>G",
"hgvs_p": null,
"transcript": "ENST00000483663.5",
"protein_id": "ENSP00000418475.1",
"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": 932,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000483663.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.*170A>G",
"hgvs_p": null,
"transcript": "ENST00000456528.5",
"protein_id": "ENSP00000401529.1",
"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": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456528.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.*35A>G",
"hgvs_p": null,
"transcript": "ENST00000457916.5",
"protein_id": "ENSP00000405942.1",
"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": 936,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457916.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.*35A>G",
"hgvs_p": null,
"transcript": "ENST00000483663.5",
"protein_id": "ENSP00000418475.1",
"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": 932,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000483663.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.37-6375A>G",
"hgvs_p": null,
"transcript": "ENST00000422814.5",
"protein_id": "ENSP00000395288.1",
"transcript_support_level": 4,
"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": 512,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422814.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.189-1775A>G",
"hgvs_p": null,
"transcript": "ENST00000622194.4",
"protein_id": "ENSP00000478045.1",
"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": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000622194.4"
}
],
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"dbsnp": "rs370196395",
"frequency_reference_population": 0.0000013686463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136865,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"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": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.537,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001077350.3",
"gene_symbol": "NPRL3",
"hgnc_id": 14124,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Thr98Thr"
}
],
"clinvar_disease": " familial focal, with variable foci 3,Epilepsy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Epilepsy, familial focal, with variable foci 3",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}