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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: 1-224294382-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=224294382&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 224294382,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000281701.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1210G>C",
"hgvs_p": "p.Val404Leu",
"transcript": "NM_002533.4",
"protein_id": "NP_002524.2",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 856,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": "ENST00000281701.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1210G>C",
"hgvs_p": "p.Val404Leu",
"transcript": "ENST00000281701.11",
"protein_id": "ENSP00000281701.6",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 856,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": "NM_002533.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.892G>C",
"hgvs_p": "p.Val298Leu",
"transcript": "ENST00000391875.6",
"protein_id": "ENSP00000375747.2",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 750,
"cds_start": 892,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.937G>C",
"hgvs_p": "p.Val313Leu",
"transcript": "NM_001243147.2",
"protein_id": "NP_001230076.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 765,
"cds_start": 937,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.937G>C",
"hgvs_p": "p.Val313Leu",
"transcript": "ENST00000469075.5",
"protein_id": "ENSP00000417826.1",
"transcript_support_level": 2,
"aa_start": 313,
"aa_end": null,
"aa_length": 765,
"cds_start": 937,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.892G>C",
"hgvs_p": "p.Val298Leu",
"transcript": "NM_206840.3",
"protein_id": "NP_996671.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 750,
"cds_start": 892,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.643G>C",
"hgvs_p": "p.Val215Leu",
"transcript": "NM_001243146.2",
"protein_id": "NP_001230075.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 667,
"cds_start": 643,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.643G>C",
"hgvs_p": "p.Val215Leu",
"transcript": "ENST00000340871.8",
"protein_id": "ENSP00000341362.4",
"transcript_support_level": 2,
"aa_start": 215,
"aa_end": null,
"aa_length": 667,
"cds_start": 643,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.643G>C",
"hgvs_p": "p.Val215Leu",
"transcript": "ENST00000482491.5",
"protein_id": "ENSP00000417213.2",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 667,
"cds_start": 643,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Val207Leu",
"transcript": "ENST00000469968.5",
"protein_id": "ENSP00000419420.2",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 659,
"cds_start": 619,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Val465Leu",
"transcript": "XM_017001378.2",
"protein_id": "XP_016856867.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 917,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1312G>C",
"hgvs_p": "p.Val438Leu",
"transcript": "XM_017001379.2",
"protein_id": "XP_016856868.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 890,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Val465Leu",
"transcript": "XM_017001380.3",
"protein_id": "XP_016856869.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 889,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1291G>C",
"hgvs_p": "p.Val431Leu",
"transcript": "XM_011544196.1",
"protein_id": "XP_011542498.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 883,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Val360Leu",
"transcript": "XM_017001383.2",
"protein_id": "XP_016856872.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 812,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Val465Leu",
"transcript": "XM_017001384.2",
"protein_id": "XP_016856873.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 789,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.937G>C",
"hgvs_p": "p.Val313Leu",
"transcript": "XM_047421613.1",
"protein_id": "XP_047277569.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 765,
"cds_start": 937,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1312G>C",
"hgvs_p": "p.Val438Leu",
"transcript": "XM_047421618.1",
"protein_id": "XP_047277574.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 762,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Val465Leu",
"transcript": "XM_017001385.3",
"protein_id": "XP_016856874.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 756,
"cds_start": 1393,
"cds_end": null,
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"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1291G>C",
"hgvs_p": "p.Val431Leu",
"transcript": "XM_047421621.1",
"protein_id": "XP_047277577.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 755,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1312G>C",
"hgvs_p": "p.Val438Leu",
"transcript": "XM_047421626.1",
"protein_id": "XP_047277582.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 729,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1210G>C",
"hgvs_p": "p.Val404Leu",
"transcript": "XM_047421631.1",
"protein_id": "XP_047277587.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 728,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1291G>C",
"hgvs_p": "p.Val431Leu",
"transcript": "XM_047421635.1",
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},
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{
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{
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},
{
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}
],
"gene_symbol": "NVL",
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"dbsnp": "rs34631151",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_genomes_af": 0.00000657609,
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"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.687142014503479,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.827,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.071,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000281701.11",
"gene_symbol": "NVL",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Val404Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}