← 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: 1-237808904-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=237808904&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 237808904,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000366574.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14302G>A",
"hgvs_p": "p.Val4768Ile",
"transcript": "NM_001035.3",
"protein_id": "NP_001026.2",
"transcript_support_level": null,
"aa_start": 4768,
"aa_end": null,
"aa_length": 4967,
"cds_start": 14302,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 14640,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "ENST00000366574.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14302G>A",
"hgvs_p": "p.Val4768Ile",
"transcript": "ENST00000366574.7",
"protein_id": "ENSP00000355533.2",
"transcript_support_level": 1,
"aa_start": 4768,
"aa_end": null,
"aa_length": 4967,
"cds_start": 14302,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 14640,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "NM_001035.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14320G>A",
"hgvs_p": "p.Val4774Ile",
"transcript": "ENST00000661330.2",
"protein_id": "ENSP00000499393.2",
"transcript_support_level": null,
"aa_start": 4774,
"aa_end": null,
"aa_length": 4973,
"cds_start": 14320,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 14658,
"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": 99,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*5394G>A",
"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": 99,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*5394G>A",
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14323G>A",
"hgvs_p": "p.Val4775Ile",
"transcript": "ENST00000660292.2",
"protein_id": "ENSP00000499787.2",
"transcript_support_level": null,
"aa_start": 4775,
"aa_end": null,
"aa_length": 4974,
"cds_start": 14323,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 14661,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14320G>A",
"hgvs_p": "p.Val4774Ile",
"transcript": "ENST00000714021.1",
"protein_id": "ENSP00000519311.1",
"transcript_support_level": null,
"aa_start": 4774,
"aa_end": null,
"aa_length": 4973,
"cds_start": 14320,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 14658,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14284G>A",
"hgvs_p": "p.Val4762Ile",
"transcript": "ENST00000659194.3",
"protein_id": "ENSP00000499653.3",
"transcript_support_level": null,
"aa_start": 4762,
"aa_end": null,
"aa_length": 4961,
"cds_start": 14284,
"cds_end": null,
"cds_length": 14886,
"cdna_start": 14622,
"cdna_end": null,
"cdna_length": 16565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 98,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14266G>A",
"hgvs_p": "p.Val4756Ile",
"transcript": "ENST00000714019.1",
"protein_id": "ENSP00000519309.1",
"transcript_support_level": null,
"aa_start": 4756,
"aa_end": null,
"aa_length": 4955,
"cds_start": 14266,
"cds_end": null,
"cds_length": 14868,
"cdna_start": 14604,
"cdna_end": null,
"cdna_length": 16547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 97,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14191G>A",
"hgvs_p": "p.Val4731Ile",
"transcript": "ENST00000714018.1",
"protein_id": "ENSP00000519308.1",
"transcript_support_level": null,
"aa_start": 4731,
"aa_end": null,
"aa_length": 4930,
"cds_start": 14191,
"cds_end": null,
"cds_length": 14793,
"cdna_start": 14529,
"cdna_end": null,
"cdna_length": 16472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.12337G>A",
"hgvs_p": "p.Val4113Ile",
"transcript": "ENST00000714022.1",
"protein_id": "ENSP00000519312.1",
"transcript_support_level": null,
"aa_start": 4113,
"aa_end": null,
"aa_length": 4312,
"cds_start": 12337,
"cds_end": null,
"cds_length": 12939,
"cdna_start": 12769,
"cdna_end": null,
"cdna_length": 14712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 102,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14356G>A",
"hgvs_p": "p.Val4786Ile",
"transcript": "XM_006711802.4",
"protein_id": "XP_006711865.1",
"transcript_support_level": null,
"aa_start": 4786,
"aa_end": null,
"aa_length": 4985,
"cds_start": 14356,
"cds_end": null,
"cds_length": 14958,
"cdna_start": 14694,
"cdna_end": null,
"cdna_length": 16637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 102,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14353G>A",
"hgvs_p": "p.Val4785Ile",
"transcript": "XM_006711803.4",
"protein_id": "XP_006711866.1",
"transcript_support_level": null,
"aa_start": 4785,
"aa_end": null,
"aa_length": 4984,
"cds_start": 14353,
"cds_end": null,
"cds_length": 14955,
"cdna_start": 14691,
"cdna_end": null,
"cdna_length": 16634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14335G>A",
"hgvs_p": "p.Val4779Ile",
"transcript": "XM_017002028.2",
"protein_id": "XP_016857517.1",
"transcript_support_level": null,
"aa_start": 4779,
"aa_end": null,
"aa_length": 4978,
"cds_start": 14335,
"cds_end": null,
"cds_length": 14937,
"cdna_start": 14673,
"cdna_end": null,
"cdna_length": 16616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14332G>A",
"hgvs_p": "p.Val4778Ile",
"transcript": "XM_006711804.4",
"protein_id": "XP_006711867.1",
"transcript_support_level": null,
"aa_start": 4778,
"aa_end": null,
"aa_length": 4977,
"cds_start": 14332,
"cds_end": null,
"cds_length": 14934,
"cdna_start": 14670,
"cdna_end": null,
"cdna_length": 16613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14326G>A",
"hgvs_p": "p.Val4776Ile",
"transcript": "XM_006711805.4",
"protein_id": "XP_006711868.1",
"transcript_support_level": null,
"aa_start": 4776,
"aa_end": null,
"aa_length": 4975,
"cds_start": 14326,
"cds_end": null,
"cds_length": 14928,
"cdna_start": 14664,
"cdna_end": null,
"cdna_length": 16607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14323G>A",
"hgvs_p": "p.Val4775Ile",
"transcript": "XM_047427317.1",
"protein_id": "XP_047283273.1",
"transcript_support_level": null,
"aa_start": 4775,
"aa_end": null,
"aa_length": 4974,
"cds_start": 14323,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 14661,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14320G>A",
"hgvs_p": "p.Val4774Ile",
"transcript": "XM_006711806.4",
"protein_id": "XP_006711869.1",
"transcript_support_level": null,
"aa_start": 4774,
"aa_end": null,
"aa_length": 4973,
"cds_start": 14320,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 14658,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 100,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14296G>A",
"hgvs_p": "p.Val4766Ile",
"transcript": "XM_006711807.4",
"protein_id": "XP_006711870.1",
"transcript_support_level": null,
"aa_start": 4766,
"aa_end": null,
"aa_length": 4965,
"cds_start": 14296,
"cds_end": null,
"cds_length": 14898,
"cdna_start": 14634,
"cdna_end": null,
"cdna_length": 16577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 99,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14263G>A",
"hgvs_p": "p.Val4755Ile",
"transcript": "XM_006711810.4",
"protein_id": "XP_006711873.1",
"transcript_support_level": null,
"aa_start": 4755,
"aa_end": null,
"aa_length": 4954,
"cds_start": 14263,
"cds_end": null,
"cds_length": 14865,
"cdna_start": 14601,
"cdna_end": null,
"cdna_length": 16544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 99,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14119G>A",
"hgvs_p": "p.Val4707Ile",
"transcript": "XM_006711808.4",
"protein_id": "XP_006711871.1",
"transcript_support_level": null,
"aa_start": 4707,
"aa_end": null,
"aa_length": 4906,
"cds_start": 14119,
"cds_end": null,
"cds_length": 14721,
"cdna_start": 14457,
"cdna_end": null,
"cdna_length": 16400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 98,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14089G>A",
"hgvs_p": "p.Val4697Ile",
"transcript": "XM_047427329.1",
"protein_id": "XP_047283285.1",
"transcript_support_level": null,
"aa_start": 4697,
"aa_end": null,
"aa_length": 4896,
"cds_start": 14089,
"cds_end": null,
"cds_length": 14691,
"cdna_start": 14427,
"cdna_end": null,
"cdna_length": 16370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 98,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14083G>A",
"hgvs_p": "p.Val4695Ile",
"transcript": "XM_047427333.1",
"protein_id": "XP_047283289.1",
"transcript_support_level": null,
"aa_start": 4695,
"aa_end": null,
"aa_length": 4894,
"cds_start": 14083,
"cds_end": null,
"cds_length": 14685,
"cdna_start": 14421,
"cdna_end": null,
"cdna_length": 16364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 97,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14059G>A",
"hgvs_p": "p.Val4687Ile",
"transcript": "XM_047427336.1",
"protein_id": "XP_047283292.1",
"transcript_support_level": null,
"aa_start": 4687,
"aa_end": null,
"aa_length": 4886,
"cds_start": 14059,
"cds_end": null,
"cds_length": 14661,
"cdna_start": 14397,
"cdna_end": null,
"cdna_length": 16340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 97,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14053G>A",
"hgvs_p": "p.Val4685Ile",
"transcript": "XM_047427337.1",
"protein_id": "XP_047283293.1",
"transcript_support_level": null,
"aa_start": 4685,
"aa_end": null,
"aa_length": 4884,
"cds_start": 14053,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 14391,
"cdna_end": null,
"cdna_length": 16334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.14029G>A",
"hgvs_p": "p.Val4677Ile",
"transcript": "XM_047427341.1",
"protein_id": "XP_047283297.1",
"transcript_support_level": null,
"aa_start": 4677,
"aa_end": null,
"aa_length": 4876,
"cds_start": 14029,
"cds_end": null,
"cds_length": 14631,
"cdna_start": 14367,
"cdna_end": null,
"cdna_length": 16310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.813G>A",
"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": "rs775534249",
"frequency_reference_population": 0.000021073665,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000225846,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.64879310131073,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.629,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1219,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.147,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP2,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 5,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000366574.7",
"gene_symbol": "RYR2",
"hgnc_id": 10484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.14302G>A",
"hgvs_p": "p.Val4768Ile"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}