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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: 1-237806205-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=237806205&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 237806205,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000366574.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 99,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14220C>T",
"hgvs_p": "p.Ala4740Ala",
"transcript": "NM_001035.3",
"protein_id": "NP_001026.2",
"transcript_support_level": null,
"aa_start": 4740,
"aa_end": null,
"aa_length": 4967,
"cds_start": 14220,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 14558,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "ENST00000366574.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 99,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14220C>T",
"hgvs_p": "p.Ala4740Ala",
"transcript": "ENST00000366574.7",
"protein_id": "ENSP00000355533.2",
"transcript_support_level": 1,
"aa_start": 4740,
"aa_end": null,
"aa_length": 4967,
"cds_start": 14220,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 14558,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "NM_001035.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14238C>T",
"hgvs_p": "p.Ala4746Ala",
"transcript": "ENST00000661330.2",
"protein_id": "ENSP00000499393.2",
"transcript_support_level": null,
"aa_start": 4746,
"aa_end": null,
"aa_length": 4973,
"cds_start": 14238,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 14576,
"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": 98,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*5312C>T",
"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": 98,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*5312C>T",
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14241C>T",
"hgvs_p": "p.Ala4747Ala",
"transcript": "ENST00000660292.2",
"protein_id": "ENSP00000499787.2",
"transcript_support_level": null,
"aa_start": 4747,
"aa_end": null,
"aa_length": 4974,
"cds_start": 14241,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 14579,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14238C>T",
"hgvs_p": "p.Ala4746Ala",
"transcript": "ENST00000714021.1",
"protein_id": "ENSP00000519311.1",
"transcript_support_level": null,
"aa_start": 4746,
"aa_end": null,
"aa_length": 4973,
"cds_start": 14238,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 14576,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 99,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14202C>T",
"hgvs_p": "p.Ala4734Ala",
"transcript": "ENST00000659194.3",
"protein_id": "ENSP00000499653.3",
"transcript_support_level": null,
"aa_start": 4734,
"aa_end": null,
"aa_length": 4961,
"cds_start": 14202,
"cds_end": null,
"cds_length": 14886,
"cdna_start": 14540,
"cdna_end": null,
"cdna_length": 16565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 97,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14184C>T",
"hgvs_p": "p.Ala4728Ala",
"transcript": "ENST00000714019.1",
"protein_id": "ENSP00000519309.1",
"transcript_support_level": null,
"aa_start": 4728,
"aa_end": null,
"aa_length": 4955,
"cds_start": 14184,
"cds_end": null,
"cds_length": 14868,
"cdna_start": 14522,
"cdna_end": null,
"cdna_length": 16547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14109C>T",
"hgvs_p": "p.Ala4703Ala",
"transcript": "ENST00000714018.1",
"protein_id": "ENSP00000519308.1",
"transcript_support_level": null,
"aa_start": 4703,
"aa_end": null,
"aa_length": 4930,
"cds_start": 14109,
"cds_end": null,
"cds_length": 14793,
"cdna_start": 14447,
"cdna_end": null,
"cdna_length": 16472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.12255C>T",
"hgvs_p": "p.Ala4085Ala",
"transcript": "ENST00000714022.1",
"protein_id": "ENSP00000519312.1",
"transcript_support_level": null,
"aa_start": 4085,
"aa_end": null,
"aa_length": 4312,
"cds_start": 12255,
"cds_end": null,
"cds_length": 12939,
"cdna_start": 12687,
"cdna_end": null,
"cdna_length": 14712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14274C>T",
"hgvs_p": "p.Ala4758Ala",
"transcript": "XM_006711802.4",
"protein_id": "XP_006711865.1",
"transcript_support_level": null,
"aa_start": 4758,
"aa_end": null,
"aa_length": 4985,
"cds_start": 14274,
"cds_end": null,
"cds_length": 14958,
"cdna_start": 14612,
"cdna_end": null,
"cdna_length": 16637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14271C>T",
"hgvs_p": "p.Ala4757Ala",
"transcript": "XM_006711803.4",
"protein_id": "XP_006711866.1",
"transcript_support_level": null,
"aa_start": 4757,
"aa_end": null,
"aa_length": 4984,
"cds_start": 14271,
"cds_end": null,
"cds_length": 14955,
"cdna_start": 14609,
"cdna_end": null,
"cdna_length": 16634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14253C>T",
"hgvs_p": "p.Ala4751Ala",
"transcript": "XM_017002028.2",
"protein_id": "XP_016857517.1",
"transcript_support_level": null,
"aa_start": 4751,
"aa_end": null,
"aa_length": 4978,
"cds_start": 14253,
"cds_end": null,
"cds_length": 14937,
"cdna_start": 14591,
"cdna_end": null,
"cdna_length": 16616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14250C>T",
"hgvs_p": "p.Ala4750Ala",
"transcript": "XM_006711804.4",
"protein_id": "XP_006711867.1",
"transcript_support_level": null,
"aa_start": 4750,
"aa_end": null,
"aa_length": 4977,
"cds_start": 14250,
"cds_end": null,
"cds_length": 14934,
"cdna_start": 14588,
"cdna_end": null,
"cdna_length": 16613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14244C>T",
"hgvs_p": "p.Ala4748Ala",
"transcript": "XM_006711805.4",
"protein_id": "XP_006711868.1",
"transcript_support_level": null,
"aa_start": 4748,
"aa_end": null,
"aa_length": 4975,
"cds_start": 14244,
"cds_end": null,
"cds_length": 14928,
"cdna_start": 14582,
"cdna_end": null,
"cdna_length": 16607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14241C>T",
"hgvs_p": "p.Ala4747Ala",
"transcript": "XM_047427317.1",
"protein_id": "XP_047283273.1",
"transcript_support_level": null,
"aa_start": 4747,
"aa_end": null,
"aa_length": 4974,
"cds_start": 14241,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 14579,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14238C>T",
"hgvs_p": "p.Ala4746Ala",
"transcript": "XM_006711806.4",
"protein_id": "XP_006711869.1",
"transcript_support_level": null,
"aa_start": 4746,
"aa_end": null,
"aa_length": 4973,
"cds_start": 14238,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 14576,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 99,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14214C>T",
"hgvs_p": "p.Ala4738Ala",
"transcript": "XM_006711807.4",
"protein_id": "XP_006711870.1",
"transcript_support_level": null,
"aa_start": 4738,
"aa_end": null,
"aa_length": 4965,
"cds_start": 14214,
"cds_end": null,
"cds_length": 14898,
"cdna_start": 14552,
"cdna_end": null,
"cdna_length": 16577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 98,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14181C>T",
"hgvs_p": "p.Ala4727Ala",
"transcript": "XM_006711810.4",
"protein_id": "XP_006711873.1",
"transcript_support_level": null,
"aa_start": 4727,
"aa_end": null,
"aa_length": 4954,
"cds_start": 14181,
"cds_end": null,
"cds_length": 14865,
"cdna_start": 14519,
"cdna_end": null,
"cdna_length": 16544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 98,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14037C>T",
"hgvs_p": "p.Ala4679Ala",
"transcript": "XM_006711808.4",
"protein_id": "XP_006711871.1",
"transcript_support_level": null,
"aa_start": 4679,
"aa_end": null,
"aa_length": 4906,
"cds_start": 14037,
"cds_end": null,
"cds_length": 14721,
"cdna_start": 14375,
"cdna_end": null,
"cdna_length": 16400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 97,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14007C>T",
"hgvs_p": "p.Ala4669Ala",
"transcript": "XM_047427329.1",
"protein_id": "XP_047283285.1",
"transcript_support_level": null,
"aa_start": 4669,
"aa_end": null,
"aa_length": 4896,
"cds_start": 14007,
"cds_end": null,
"cds_length": 14691,
"cdna_start": 14345,
"cdna_end": null,
"cdna_length": 16370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 97,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
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"feature": null
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 96,
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"exon_count": 102,
"intron_rank": null,
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"gene_symbol": "RYR2",
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"hgvs_c": "c.13977C>T",
"hgvs_p": "p.Ala4659Ala",
"transcript": "XM_047427336.1",
"protein_id": "XP_047283292.1",
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"aa_start": 4659,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 96,
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"exon_count": 102,
"intron_rank": null,
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"gene_symbol": "RYR2",
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"hgvs_c": "c.13971C>T",
"hgvs_p": "p.Ala4657Ala",
"transcript": "XM_047427337.1",
"protein_id": "XP_047283293.1",
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},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 95,
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"exon_count": 101,
"intron_rank": null,
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"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13947C>T",
"hgvs_p": "p.Ala4649Ala",
"transcript": "XM_047427341.1",
"protein_id": "XP_047283297.1",
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"aa_start": 4649,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.731C>T",
"hgvs_p": null,
"transcript": "ENST00000608590.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"dbsnp": "rs368971586",
"frequency_reference_population": 0.00004031148,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000260169,
"gnomad_genomes_af": 0.0001778,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.841,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000366574.7",
"gene_symbol": "RYR2",
"hgnc_id": 10484,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.14220C>T",
"hgvs_p": "p.Ala4740Ala"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 2,Cardiomyopathy,Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:6",
"phenotype_combined": "Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|not provided|Catecholaminergic polymorphic ventricular tachycardia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}