← 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: 1-237772093-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=237772093&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 237772093,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000366574.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11639G>C",
"hgvs_p": "p.Arg3880Thr",
"transcript": "NM_001035.3",
"protein_id": "NP_001026.2",
"transcript_support_level": null,
"aa_start": 3880,
"aa_end": null,
"aa_length": 4967,
"cds_start": 11639,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 11977,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "ENST00000366574.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11639G>C",
"hgvs_p": "p.Arg3880Thr",
"transcript": "ENST00000366574.7",
"protein_id": "ENSP00000355533.2",
"transcript_support_level": 1,
"aa_start": 3880,
"aa_end": null,
"aa_length": 4967,
"cds_start": 11639,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 11977,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "NM_001035.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11663G>C",
"hgvs_p": "p.Arg3888Thr",
"transcript": "ENST00000661330.2",
"protein_id": "ENSP00000499393.2",
"transcript_support_level": null,
"aa_start": 3888,
"aa_end": null,
"aa_length": 4973,
"cds_start": 11663,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 12001,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*2731G>C",
"hgvs_p": null,
"transcript": "ENST00000609119.2",
"protein_id": "ENSP00000499659.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*2731G>C",
"hgvs_p": null,
"transcript": "ENST00000609119.2",
"protein_id": "ENSP00000499659.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11660G>C",
"hgvs_p": "p.Arg3887Thr",
"transcript": "ENST00000660292.2",
"protein_id": "ENSP00000499787.2",
"transcript_support_level": null,
"aa_start": 3887,
"aa_end": null,
"aa_length": 4974,
"cds_start": 11660,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 11998,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11657G>C",
"hgvs_p": "p.Arg3886Thr",
"transcript": "ENST00000714021.1",
"protein_id": "ENSP00000519311.1",
"transcript_support_level": null,
"aa_start": 3886,
"aa_end": null,
"aa_length": 4973,
"cds_start": 11657,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 11995,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11627G>C",
"hgvs_p": "p.Arg3876Thr",
"transcript": "ENST00000659194.3",
"protein_id": "ENSP00000499653.3",
"transcript_support_level": null,
"aa_start": 3876,
"aa_end": null,
"aa_length": 4961,
"cds_start": 11627,
"cds_end": null,
"cds_length": 14886,
"cdna_start": 11965,
"cdna_end": null,
"cdna_length": 16565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11603G>C",
"hgvs_p": "p.Arg3868Thr",
"transcript": "ENST00000714019.1",
"protein_id": "ENSP00000519309.1",
"transcript_support_level": null,
"aa_start": 3868,
"aa_end": null,
"aa_length": 4955,
"cds_start": 11603,
"cds_end": null,
"cds_length": 14868,
"cdna_start": 11941,
"cdna_end": null,
"cdna_length": 16547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11528G>C",
"hgvs_p": "p.Arg3843Thr",
"transcript": "ENST00000714018.1",
"protein_id": "ENSP00000519308.1",
"transcript_support_level": null,
"aa_start": 3843,
"aa_end": null,
"aa_length": 4930,
"cds_start": 11528,
"cds_end": null,
"cds_length": 14793,
"cdna_start": 11866,
"cdna_end": null,
"cdna_length": 16472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.9674G>C",
"hgvs_p": "p.Arg3225Thr",
"transcript": "ENST00000714022.1",
"protein_id": "ENSP00000519312.1",
"transcript_support_level": null,
"aa_start": 3225,
"aa_end": null,
"aa_length": 4312,
"cds_start": 9674,
"cds_end": null,
"cds_length": 12939,
"cdna_start": 10106,
"cdna_end": null,
"cdna_length": 14712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11693G>C",
"hgvs_p": "p.Arg3898Thr",
"transcript": "XM_006711802.4",
"protein_id": "XP_006711865.1",
"transcript_support_level": null,
"aa_start": 3898,
"aa_end": null,
"aa_length": 4985,
"cds_start": 11693,
"cds_end": null,
"cds_length": 14958,
"cdna_start": 12031,
"cdna_end": null,
"cdna_length": 16637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11690G>C",
"hgvs_p": "p.Arg3897Thr",
"transcript": "XM_006711803.4",
"protein_id": "XP_006711866.1",
"transcript_support_level": null,
"aa_start": 3897,
"aa_end": null,
"aa_length": 4984,
"cds_start": 11690,
"cds_end": null,
"cds_length": 14955,
"cdna_start": 12028,
"cdna_end": null,
"cdna_length": 16634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11672G>C",
"hgvs_p": "p.Arg3891Thr",
"transcript": "XM_017002028.2",
"protein_id": "XP_016857517.1",
"transcript_support_level": null,
"aa_start": 3891,
"aa_end": null,
"aa_length": 4978,
"cds_start": 11672,
"cds_end": null,
"cds_length": 14937,
"cdna_start": 12010,
"cdna_end": null,
"cdna_length": 16616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11669G>C",
"hgvs_p": "p.Arg3890Thr",
"transcript": "XM_006711804.4",
"protein_id": "XP_006711867.1",
"transcript_support_level": null,
"aa_start": 3890,
"aa_end": null,
"aa_length": 4977,
"cds_start": 11669,
"cds_end": null,
"cds_length": 14934,
"cdna_start": 12007,
"cdna_end": null,
"cdna_length": 16613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11663G>C",
"hgvs_p": "p.Arg3888Thr",
"transcript": "XM_006711805.4",
"protein_id": "XP_006711868.1",
"transcript_support_level": null,
"aa_start": 3888,
"aa_end": null,
"aa_length": 4975,
"cds_start": 11663,
"cds_end": null,
"cds_length": 14928,
"cdna_start": 12001,
"cdna_end": null,
"cdna_length": 16607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11660G>C",
"hgvs_p": "p.Arg3887Thr",
"transcript": "XM_047427317.1",
"protein_id": "XP_047283273.1",
"transcript_support_level": null,
"aa_start": 3887,
"aa_end": null,
"aa_length": 4974,
"cds_start": 11660,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 11998,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11657G>C",
"hgvs_p": "p.Arg3886Thr",
"transcript": "XM_006711806.4",
"protein_id": "XP_006711869.1",
"transcript_support_level": null,
"aa_start": 3886,
"aa_end": null,
"aa_length": 4973,
"cds_start": 11657,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 11995,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11633G>C",
"hgvs_p": "p.Arg3878Thr",
"transcript": "XM_006711807.4",
"protein_id": "XP_006711870.1",
"transcript_support_level": null,
"aa_start": 3878,
"aa_end": null,
"aa_length": 4965,
"cds_start": 11633,
"cds_end": null,
"cds_length": 14898,
"cdna_start": 11971,
"cdna_end": null,
"cdna_length": 16577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11600G>C",
"hgvs_p": "p.Arg3867Thr",
"transcript": "XM_006711810.4",
"protein_id": "XP_006711873.1",
"transcript_support_level": null,
"aa_start": 3867,
"aa_end": null,
"aa_length": 4954,
"cds_start": 11600,
"cds_end": null,
"cds_length": 14865,
"cdna_start": 11938,
"cdna_end": null,
"cdna_length": 16544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11456G>C",
"hgvs_p": "p.Arg3819Thr",
"transcript": "XM_006711808.4",
"protein_id": "XP_006711871.1",
"transcript_support_level": null,
"aa_start": 3819,
"aa_end": null,
"aa_length": 4906,
"cds_start": 11456,
"cds_end": null,
"cds_length": 14721,
"cdna_start": 11794,
"cdna_end": null,
"cdna_length": 16400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11426G>C",
"hgvs_p": "p.Arg3809Thr",
"transcript": "XM_047427329.1",
"protein_id": "XP_047283285.1",
"transcript_support_level": null,
"aa_start": 3809,
"aa_end": null,
"aa_length": 4896,
"cds_start": 11426,
"cds_end": null,
"cds_length": 14691,
"cdna_start": 11764,
"cdna_end": null,
"cdna_length": 16370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11420G>C",
"hgvs_p": "p.Arg3807Thr",
"transcript": "XM_047427333.1",
"protein_id": "XP_047283289.1",
"transcript_support_level": null,
"aa_start": 3807,
"aa_end": null,
"aa_length": 4894,
"cds_start": 11420,
"cds_end": null,
"cds_length": 14685,
"cdna_start": 11758,
"cdna_end": null,
"cdna_length": 16364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11396G>C",
"hgvs_p": "p.Arg3799Thr",
"transcript": "XM_047427336.1",
"protein_id": "XP_047283292.1",
"transcript_support_level": null,
"aa_start": 3799,
"aa_end": null,
"aa_length": 4886,
"cds_start": 11396,
"cds_end": null,
"cds_length": 14661,
"cdna_start": 11734,
"cdna_end": null,
"cdna_length": 16340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11390G>C",
"hgvs_p": "p.Arg3797Thr",
"transcript": "XM_047427337.1",
"protein_id": "XP_047283293.1",
"transcript_support_level": null,
"aa_start": 3797,
"aa_end": null,
"aa_length": 4884,
"cds_start": 11390,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 11728,
"cdna_end": null,
"cdna_length": 16334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11366G>C",
"hgvs_p": "p.Arg3789Thr",
"transcript": "XM_047427341.1",
"protein_id": "XP_047283297.1",
"transcript_support_level": null,
"aa_start": 3789,
"aa_end": null,
"aa_length": 4876,
"cds_start": 11366,
"cds_end": null,
"cds_length": 14631,
"cdna_start": 11704,
"cdna_end": null,
"cdna_length": 16310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"dbsnp": "rs766515965",
"frequency_reference_population": 0.0000059136783,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000591368,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9827089905738831,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.829,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9906,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.993,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3_Strong,BS2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 4,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PP2",
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000366574.7",
"gene_symbol": "RYR2",
"hgnc_id": 10484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.11639G>C",
"hgvs_p": "p.Arg3880Thr"
}
],
"clinvar_disease": "Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Catecholaminergic polymorphic ventricular tachycardia|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome;Catecholaminergic polymorphic ventricular tachycardia 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}