← 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: 1-224289698-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=224289698&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NVL",
"hgnc_id": 8070,
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Pro454Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_002533.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": 0.1776,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.34953778982162476,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 856,
"aa_ref": "P",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002533.4",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Pro454Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281701.11",
"protein_coding": true,
"protein_id": "NP_002524.2",
"strand": false,
"transcript": "NM_002533.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 856,
"aa_ref": "P",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000281701.11",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Pro454Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002533.4",
"protein_coding": true,
"protein_id": "ENSP00000281701.6",
"strand": false,
"transcript": "ENST00000281701.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 750,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000391875.6",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1043C>T",
"hgvs_p": "p.Pro348Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375747.2",
"strand": false,
"transcript": "ENST00000391875.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 811,
"aa_ref": "P",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000933815.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1226C>T",
"hgvs_p": "p.Pro409Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603874.1",
"strand": false,
"transcript": "ENST00000933815.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 777,
"aa_ref": "P",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000933818.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Pro454Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603877.1",
"strand": false,
"transcript": "ENST00000933818.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 765,
"aa_ref": "P",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001243147.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Pro363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230076.1",
"strand": false,
"transcript": "NM_001243147.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 765,
"aa_ref": "P",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000469075.5",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Pro363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417826.1",
"strand": false,
"transcript": "ENST00000469075.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 750,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_206840.3",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1043C>T",
"hgvs_p": "p.Pro348Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996671.1",
"strand": false,
"transcript": "NM_206840.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 2004,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001243146.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230075.1",
"strand": false,
"transcript": "NM_001243146.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 2004,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000340871.8",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341362.4",
"strand": false,
"transcript": "ENST00000340871.8",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 2004,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000482491.5",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417213.2",
"strand": false,
"transcript": "ENST00000482491.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 664,
"aa_ref": "P",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000933816.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Pro454Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603875.1",
"strand": false,
"transcript": "ENST00000933816.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 659,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1980,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000469968.5",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Pro257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419420.2",
"strand": false,
"transcript": "ENST00000469968.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 917,
"aa_ref": "P",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2754,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017001378.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1544C>T",
"hgvs_p": "p.Pro515Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856867.1",
"strand": false,
"transcript": "XM_017001378.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 890,
"aa_ref": "P",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017001379.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1463C>T",
"hgvs_p": "p.Pro488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856868.1",
"strand": false,
"transcript": "XM_017001379.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 889,
"aa_ref": "P",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2670,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017001380.3",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1544C>T",
"hgvs_p": "p.Pro515Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856869.1",
"strand": false,
"transcript": "XM_017001380.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 883,
"aa_ref": "P",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 2652,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011544196.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1442C>T",
"hgvs_p": "p.Pro481Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542498.1",
"strand": false,
"transcript": "XM_011544196.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 812,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017001383.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856872.1",
"strand": false,
"transcript": "XM_017001383.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 789,
"aa_ref": "P",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017001384.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1544C>T",
"hgvs_p": "p.Pro515Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856873.1",
"strand": false,
"transcript": "XM_017001384.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 765,
"aa_ref": "P",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047421613.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Pro363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277569.1",
"strand": false,
"transcript": "XM_047421613.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 762,
"aa_ref": "P",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047421618.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1463C>T",
"hgvs_p": "p.Pro488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277574.1",
"strand": false,
"transcript": "XM_047421618.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4167,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017001385.3",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1544C>T",
"hgvs_p": "p.Pro515Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856874.1",
"strand": false,
"transcript": "XM_017001385.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "P",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 2268,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047421621.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1442C>T",
"hgvs_p": "p.Pro481Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277577.1",
"strand": false,
"transcript": "XM_047421621.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047421626.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1463C>T",
"hgvs_p": "p.Pro488Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277582.1",
"strand": false,
"transcript": "XM_047421626.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 728,
"aa_ref": "P",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047421631.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Pro454Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277587.1",
"strand": false,
"transcript": "XM_047421631.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047421635.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1442C>T",
"hgvs_p": "p.Pro481Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277591.1",
"strand": false,
"transcript": "XM_047421635.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 695,
"aa_ref": "P",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047421637.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Pro454Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277593.1",
"strand": false,
"transcript": "XM_047421637.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 221,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 989,
"cdna_start": null,
"cds_end": null,
"cds_length": 666,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933817.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.58-14240C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603876.1",
"strand": false,
"transcript": "ENST00000933817.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 624,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000462893.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "n.111C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000462893.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000467882.5",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "n.*393C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419930.1",
"strand": false,
"transcript": "ENST00000467882.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000467882.5",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "n.*393C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419930.1",
"strand": false,
"transcript": "ENST00000467882.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs758937157",
"effect": "missense_variant",
"frequency_reference_population": 0.00002168528,
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"gnomad_exomes_ac": 34,
"gnomad_exomes_af": 0.0000232594,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656927,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.651,
"pos": 224289698,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.408,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002533.4"
}
]
}