← 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: 19-48913092-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48913092&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48913092,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006184.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "NM_006184.6",
"protein_id": "NP_006175.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 461,
"cds_start": 562,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405315.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006184.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000405315.9",
"protein_id": "ENSP00000385923.3",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 461,
"cds_start": 562,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006184.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405315.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Trp",
"transcript": "ENST00000878482.1",
"protein_id": "ENSP00000548541.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 493,
"cds_start": 658,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878482.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Trp",
"transcript": "ENST00000941802.1",
"protein_id": "ENSP00000611861.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 493,
"cds_start": 658,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941802.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878486.1",
"protein_id": "ENSP00000548545.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 487,
"cds_start": 562,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878486.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"transcript": "ENST00000924621.1",
"protein_id": "ENSP00000594680.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 486,
"cds_start": 637,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924621.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000941798.1",
"protein_id": "ENSP00000611857.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 483,
"cds_start": 562,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941798.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204Trp",
"transcript": "ENST00000878484.1",
"protein_id": "ENSP00000548543.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 477,
"cds_start": 610,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878484.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000941793.1",
"protein_id": "ENSP00000611852.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 477,
"cds_start": 562,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941793.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Arg202Trp",
"transcript": "ENST00000924620.1",
"protein_id": "ENSP00000594679.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 475,
"cds_start": 604,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924620.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Trp",
"transcript": "ENST00000706760.1",
"protein_id": "ENSP00000516537.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 471,
"cds_start": 592,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706760.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000452087.6",
"protein_id": "ENSP00000389007.2",
"transcript_support_level": 3,
"aa_start": 188,
"aa_end": null,
"aa_length": 470,
"cds_start": 562,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452087.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000407032.5",
"protein_id": "ENSP00000385211.1",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 461,
"cds_start": 562,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407032.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000411700.6",
"protein_id": "ENSP00000410519.2",
"transcript_support_level": 4,
"aa_start": 188,
"aa_end": null,
"aa_length": 461,
"cds_start": 562,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411700.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000451312.6",
"protein_id": "ENSP00000397201.2",
"transcript_support_level": 2,
"aa_start": 188,
"aa_end": null,
"aa_length": 461,
"cds_start": 562,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451312.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000706746.1",
"protein_id": "ENSP00000516525.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 461,
"cds_start": 562,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706746.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878481.1",
"protein_id": "ENSP00000548540.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 461,
"cds_start": 562,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878481.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000941791.1",
"protein_id": "ENSP00000611850.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 459,
"cds_start": 562,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941791.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000941792.1",
"protein_id": "ENSP00000611851.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 459,
"cds_start": 562,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941792.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185Trp",
"transcript": "ENST00000941797.1",
"protein_id": "ENSP00000611856.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 458,
"cds_start": 553,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941797.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878478.1",
"protein_id": "ENSP00000548537.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 457,
"cds_start": 562,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878478.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000706749.1",
"protein_id": "ENSP00000516527.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 455,
"cds_start": 562,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706749.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000941801.1",
"protein_id": "ENSP00000611860.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 453,
"cds_start": 562,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941801.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"transcript": "ENST00000878479.1",
"protein_id": "ENSP00000548538.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 450,
"cds_start": 529,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878479.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000706757.1",
"protein_id": "ENSP00000516534.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 449,
"cds_start": 562,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706757.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878488.1",
"protein_id": "ENSP00000548547.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 449,
"cds_start": 562,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878488.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878477.1",
"protein_id": "ENSP00000548536.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 448,
"cds_start": 562,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878477.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000706753.1",
"protein_id": "ENSP00000516531.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 447,
"cds_start": 562,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706753.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878480.1",
"protein_id": "ENSP00000548539.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 446,
"cds_start": 562,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878480.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000941800.1",
"protein_id": "ENSP00000611859.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 442,
"cds_start": 562,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941800.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Arg158Trp",
"transcript": "ENST00000424608.2",
"protein_id": "ENSP00000389734.2",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 431,
"cds_start": 472,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424608.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000924622.1",
"protein_id": "ENSP00000594681.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 430,
"cds_start": 562,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924622.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000941799.1",
"protein_id": "ENSP00000611858.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 430,
"cds_start": 562,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941799.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000924619.1",
"protein_id": "ENSP00000594678.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 428,
"cds_start": 562,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924619.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000706759.1",
"protein_id": "ENSP00000516536.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 425,
"cds_start": 454,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706759.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878490.1",
"protein_id": "ENSP00000548549.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 424,
"cds_start": 562,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878490.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000941796.1",
"protein_id": "ENSP00000611855.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 415,
"cds_start": 562,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941796.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000878483.1",
"protein_id": "ENSP00000548542.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 414,
"cds_start": 421,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878483.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878487.1",
"protein_id": "ENSP00000548546.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 411,
"cds_start": 562,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878487.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878489.1",
"protein_id": "ENSP00000548548.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 408,
"cds_start": 562,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878489.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878491.1",
"protein_id": "ENSP00000548550.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 403,
"cds_start": 562,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878491.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878485.1",
"protein_id": "ENSP00000548544.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 390,
"cds_start": 562,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878485.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000706748.1",
"protein_id": "ENSP00000516526.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 324,
"cds_start": 562,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706748.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000878492.1",
"protein_id": "ENSP00000548551.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 293,
"cds_start": 562,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878492.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "XM_017026845.2",
"protein_id": "XP_016882334.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 461,
"cds_start": 562,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026845.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.481-382C>T",
"hgvs_p": null,
"transcript": "ENST00000941795.1",
"protein_id": "ENSP00000611854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.377-5634C>T",
"hgvs_p": null,
"transcript": "ENST00000941794.1",
"protein_id": "ENSP00000611853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941794.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.667C>T",
"hgvs_p": null,
"transcript": "ENST00000465524.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465524.6"
},
{
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.667C>T",
"hgvs_p": null,
"transcript": "ENST00000706745.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000706745.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.562C>T",
"hgvs_p": null,
"transcript": "ENST00000706750.1",
"protein_id": "ENSP00000516528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706750.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.562C>T",
"hgvs_p": null,
"transcript": "ENST00000706751.1",
"protein_id": "ENSP00000516529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706751.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.562C>T",
"hgvs_p": null,
"transcript": "ENST00000706752.1",
"protein_id": "ENSP00000516530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706752.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.562C>T",
"hgvs_p": null,
"transcript": "ENST00000706754.1",
"protein_id": "ENSP00000516532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706754.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.562C>T",
"hgvs_p": null,
"transcript": "ENST00000706755.1",
"protein_id": "ENSP00000516533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706755.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.667C>T",
"hgvs_p": null,
"transcript": "ENST00000706756.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000706756.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.667C>T",
"hgvs_p": null,
"transcript": "ENST00000706758.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000706758.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.529C>T",
"hgvs_p": null,
"transcript": "ENST00000706761.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000706761.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB1-AS1",
"gene_hgnc_id": 40419,
"hgvs_c": "n.224-1918G>A",
"hgvs_p": null,
"transcript": "ENST00000416432.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000416432.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.35-8062C>T",
"hgvs_p": null,
"transcript": "ENST00000485798.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485798.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "n.249-61C>T",
"hgvs_p": null,
"transcript": "ENST00000706762.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000706762.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB1-AS1",
"gene_hgnc_id": 40419,
"hgvs_c": "n.220-1990G>A",
"hgvs_p": null,
"transcript": "ENST00000788117.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000788117.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB1-AS1",
"gene_hgnc_id": 40419,
"hgvs_c": "n.189-1918G>A",
"hgvs_p": null,
"transcript": "NR_046633.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046633.1"
}
],
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"dbsnp": "rs143826495",
"frequency_reference_population": 0.000011156038,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116297,
"gnomad_genomes_af": 0.00000659204,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6270442008972168,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.6955,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.88,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006184.6",
"gene_symbol": "NUCB1",
"hgnc_id": 8043,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000416432.2",
"gene_symbol": "NUCB1-AS1",
"hgnc_id": 40419,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.224-1918G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}