← 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: 17-5558520-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5558520&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5558520,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_033004.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "NM_033004.4",
"protein_id": "NP_127497.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1473,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000572272.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033004.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000572272.6",
"protein_id": "ENSP00000460475.1",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1473,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033004.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572272.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000354411.8",
"protein_id": "ENSP00000346390.3",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1443,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354411.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000269280.9",
"protein_id": "ENSP00000269280.4",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269280.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000571451.7",
"protein_id": "ENSP00000459661.3",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571451.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000577119.5",
"protein_id": "ENSP00000460216.1",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577119.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000571307.2",
"protein_id": "ENSP00000514459.1",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2176,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571307.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000699633.1",
"protein_id": "ENSP00000514491.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1477,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699633.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000617618.5",
"protein_id": "ENSP00000478516.1",
"transcript_support_level": 5,
"aa_start": 726,
"aa_end": null,
"aa_length": 1473,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617618.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "NM_033006.4",
"protein_id": "NP_127499.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1443,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033006.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "NM_014922.5",
"protein_id": "NP_055737.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014922.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000576905.6",
"protein_id": "ENSP00000458303.2",
"transcript_support_level": 4,
"aa_start": 726,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576905.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000699634.1",
"protein_id": "ENSP00000514492.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1408,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699634.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "NM_033007.4",
"protein_id": "NP_127500.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033007.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000699613.1",
"protein_id": "ENSP00000514477.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1386,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699613.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "NM_001033053.3",
"protein_id": "NP_001028225.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1375,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033053.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000262467.11",
"protein_id": "ENSP00000262467.5",
"transcript_support_level": 5,
"aa_start": 726,
"aa_end": null,
"aa_length": 1375,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262467.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000699710.1",
"protein_id": "ENSP00000514535.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699710.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000699707.1",
"protein_id": "ENSP00000514532.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1341,
"cds_start": 2176,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699707.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000699614.1",
"protein_id": "ENSP00000514478.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1327,
"cds_start": 2176,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699614.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000699712.1",
"protein_id": "ENSP00000514537.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2176,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699712.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000699809.1",
"protein_id": "ENSP00000514612.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2176,
"cds_end": null,
"cds_length": 3184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699809.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000699810.1",
"protein_id": "ENSP00000514613.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2176,
"cds_end": null,
"cds_length": 3005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699810.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2209C>T",
"hgvs_p": "p.Arg737Trp",
"transcript": "ENST00000699775.1",
"protein_id": "ENSP00000514581.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 966,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699775.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000544378.7",
"protein_id": "ENSP00000442029.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000544378.7"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000572143.2",
"protein_id": "ENSP00000514476.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000572143.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699586.1",
"protein_id": "ENSP00000514458.1",
"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": "ENST00000699586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699615.1",
"protein_id": "ENSP00000514479.1",
"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": "ENST00000699615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699623.1",
"protein_id": "ENSP00000514483.1",
"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": "ENST00000699623.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699625.1",
"protein_id": "ENSP00000514484.1",
"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": "ENST00000699625.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699629.1",
"protein_id": "ENSP00000514488.1",
"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": "ENST00000699629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1461C>T",
"hgvs_p": null,
"transcript": "ENST00000699630.1",
"protein_id": "ENSP00000514489.1",
"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": "ENST00000699630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.662C>T",
"hgvs_p": null,
"transcript": "ENST00000699631.1",
"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": "ENST00000699631.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699632.1",
"protein_id": "ENSP00000514490.1",
"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": "ENST00000699632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2710C>T",
"hgvs_p": null,
"transcript": "ENST00000699636.1",
"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": "ENST00000699636.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1361C>T",
"hgvs_p": null,
"transcript": "ENST00000699642.1",
"protein_id": "ENSP00000514495.1",
"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": "ENST00000699642.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1824C>T",
"hgvs_p": null,
"transcript": "ENST00000699643.1",
"protein_id": "ENSP00000514496.1",
"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": "ENST00000699643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1461C>T",
"hgvs_p": null,
"transcript": "ENST00000699644.1",
"protein_id": "ENSP00000514497.1",
"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": "ENST00000699644.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1461C>T",
"hgvs_p": null,
"transcript": "ENST00000699645.1",
"protein_id": "ENSP00000514498.1",
"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": "ENST00000699645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699705.1",
"protein_id": "ENSP00000514530.1",
"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": "ENST00000699705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699708.1",
"protein_id": "ENSP00000514533.1",
"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": "ENST00000699708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699709.1",
"protein_id": "ENSP00000514534.1",
"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": "ENST00000699709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699711.1",
"protein_id": "ENSP00000514536.1",
"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": "ENST00000699711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699713.1",
"protein_id": "ENSP00000514538.1",
"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": "ENST00000699713.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.2176C>T",
"hgvs_p": null,
"transcript": "ENST00000699776.1",
"protein_id": "ENSP00000514582.1",
"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": "ENST00000699776.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1461C>T",
"hgvs_p": null,
"transcript": "ENST00000699630.1",
"protein_id": "ENSP00000514489.1",
"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": "ENST00000699630.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1361C>T",
"hgvs_p": null,
"transcript": "ENST00000699642.1",
"protein_id": "ENSP00000514495.1",
"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": "ENST00000699642.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1824C>T",
"hgvs_p": null,
"transcript": "ENST00000699643.1",
"protein_id": "ENSP00000514496.1",
"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": "ENST00000699643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1461C>T",
"hgvs_p": null,
"transcript": "ENST00000699644.1",
"protein_id": "ENSP00000514497.1",
"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": "ENST00000699644.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1461C>T",
"hgvs_p": null,
"transcript": "ENST00000699645.1",
"protein_id": "ENSP00000514498.1",
"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": "ENST00000699645.1"
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.653-4964C>T",
"hgvs_p": null,
"transcript": "ENST00000699665.1",
"protein_id": "ENSP00000514508.1",
"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": "ENST00000699665.1"
}
],
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"dbsnp": "rs776245016",
"frequency_reference_population": 0.000010533529,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.000010945,
"gnomad_genomes_af": 0.0000065773,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33378708362579346,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.1828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.072,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_033004.4",
"gene_symbol": "NLRP1",
"hgnc_id": 14374,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp"
}
],
"clinvar_disease": "Autoinflammation with arthritis and dyskeratosis,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Autoinflammation with arthritis and dyskeratosis|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}