← 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: 1-237784793-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=237784793&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP2",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RYR2",
"hgnc_id": 10484,
"hgvs_c": "c.13081G>A",
"hgvs_p": "p.Glu4361Lys",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_001035.3",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000296715",
"hgnc_id": null,
"hgvs_c": "n.140-117C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000741291.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BS2",
"acmg_score": -3,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.0944,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7053548097610474,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4967,
"aa_ref": "E",
"aa_start": 4361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16583,
"cdna_start": 13419,
"cds_end": null,
"cds_length": 14904,
"cds_start": 13081,
"consequences": [
"missense_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "NM_001035.3",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13081G>A",
"hgvs_p": "p.Glu4361Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366574.7",
"protein_coding": true,
"protein_id": "NP_001026.2",
"strand": true,
"transcript": "NM_001035.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4967,
"aa_ref": "E",
"aa_start": 4361,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16583,
"cdna_start": 13419,
"cds_end": null,
"cds_length": 14904,
"cds_start": 13081,
"consequences": [
"missense_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000366574.7",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13081G>A",
"hgvs_p": "p.Glu4361Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001035.3",
"protein_coding": true,
"protein_id": "ENSP00000355533.2",
"strand": true,
"transcript": "ENST00000366574.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "E",
"aa_start": 4369,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 13443,
"cds_end": null,
"cds_length": 14922,
"cds_start": 13105,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000661330.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13105G>A",
"hgvs_p": "p.Glu4369Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499393.2",
"strand": true,
"transcript": "ENST00000661330.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 16525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 104,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "ENST00000609119.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "n.*4173G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499659.2",
"strand": true,
"transcript": "ENST00000609119.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 16525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 104,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "ENST00000609119.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "n.*4173G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499659.2",
"strand": true,
"transcript": "ENST00000609119.2",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4974,
"aa_ref": "E",
"aa_start": 4368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16604,
"cdna_start": 13440,
"cds_end": null,
"cds_length": 14925,
"cds_start": 13102,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000660292.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13102G>A",
"hgvs_p": "p.Glu4368Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499787.2",
"strand": true,
"transcript": "ENST00000660292.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "E",
"aa_start": 4367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 13437,
"cds_end": null,
"cds_length": 14922,
"cds_start": 13099,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000714021.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13099G>A",
"hgvs_p": "p.Glu4367Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519311.1",
"strand": true,
"transcript": "ENST00000714021.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4961,
"aa_ref": "E",
"aa_start": 4357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16565,
"cdna_start": 13407,
"cds_end": null,
"cds_length": 14886,
"cds_start": 13069,
"consequences": [
"missense_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000659194.3",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13069G>A",
"hgvs_p": "p.Glu4357Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499653.3",
"strand": true,
"transcript": "ENST00000659194.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4955,
"aa_ref": "E",
"aa_start": 4349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16547,
"cdna_start": 13383,
"cds_end": null,
"cds_length": 14868,
"cds_start": 13045,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 88,
"exon_rank_end": null,
"feature": "ENST00000714019.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13045G>A",
"hgvs_p": "p.Glu4349Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519309.1",
"strand": true,
"transcript": "ENST00000714019.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4930,
"aa_ref": "E",
"aa_start": 4324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16472,
"cdna_start": 13308,
"cds_end": null,
"cds_length": 14793,
"cds_start": 12970,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 87,
"exon_rank_end": null,
"feature": "ENST00000714018.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12970G>A",
"hgvs_p": "p.Glu4324Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519308.1",
"strand": true,
"transcript": "ENST00000714018.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4312,
"aa_ref": "E",
"aa_start": 3706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14712,
"cdna_start": 11548,
"cds_end": null,
"cds_length": 12939,
"cds_start": 11116,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "ENST00000714022.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.11116G>A",
"hgvs_p": "p.Glu3706Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519312.1",
"strand": true,
"transcript": "ENST00000714022.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4985,
"aa_ref": "E",
"aa_start": 4379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16637,
"cdna_start": 13473,
"cds_end": null,
"cds_length": 14958,
"cds_start": 13135,
"consequences": [
"missense_variant"
],
"exon_count": 107,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_006711802.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13135G>A",
"hgvs_p": "p.Glu4379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711865.1",
"strand": true,
"transcript": "XM_006711802.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4984,
"aa_ref": "E",
"aa_start": 4378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16634,
"cdna_start": 13470,
"cds_end": null,
"cds_length": 14955,
"cds_start": 13132,
"consequences": [
"missense_variant"
],
"exon_count": 107,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_006711803.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13132G>A",
"hgvs_p": "p.Glu4378Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711866.1",
"strand": true,
"transcript": "XM_006711803.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4978,
"aa_ref": "E",
"aa_start": 4372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16616,
"cdna_start": 13452,
"cds_end": null,
"cds_length": 14937,
"cds_start": 13114,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_017002028.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13114G>A",
"hgvs_p": "p.Glu4372Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857517.1",
"strand": true,
"transcript": "XM_017002028.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4977,
"aa_ref": "E",
"aa_start": 4371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16613,
"cdna_start": 13449,
"cds_end": null,
"cds_length": 14934,
"cds_start": 13111,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711804.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13111G>A",
"hgvs_p": "p.Glu4371Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711867.1",
"strand": true,
"transcript": "XM_006711804.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4975,
"aa_ref": "E",
"aa_start": 4369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16607,
"cdna_start": 13443,
"cds_end": null,
"cds_length": 14928,
"cds_start": 13105,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711805.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13105G>A",
"hgvs_p": "p.Glu4369Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711868.1",
"strand": true,
"transcript": "XM_006711805.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4974,
"aa_ref": "E",
"aa_start": 4368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16604,
"cdna_start": 13440,
"cds_end": null,
"cds_length": 14925,
"cds_start": 13102,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_047427317.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13102G>A",
"hgvs_p": "p.Glu4368Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283273.1",
"strand": true,
"transcript": "XM_047427317.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "E",
"aa_start": 4367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 13437,
"cds_end": null,
"cds_length": 14922,
"cds_start": 13099,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711806.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13099G>A",
"hgvs_p": "p.Glu4367Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711869.1",
"strand": true,
"transcript": "XM_006711806.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4965,
"aa_ref": "E",
"aa_start": 4359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16577,
"cdna_start": 13413,
"cds_end": null,
"cds_length": 14898,
"cds_start": 13075,
"consequences": [
"missense_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_006711807.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13075G>A",
"hgvs_p": "p.Glu4359Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711870.1",
"strand": true,
"transcript": "XM_006711807.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4954,
"aa_ref": "E",
"aa_start": 4348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16544,
"cdna_start": 13380,
"cds_end": null,
"cds_length": 14865,
"cds_start": 13042,
"consequences": [
"missense_variant"
],
"exon_count": 104,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "XM_006711810.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.13042G>A",
"hgvs_p": "p.Glu4348Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711873.1",
"strand": true,
"transcript": "XM_006711810.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4906,
"aa_ref": "E",
"aa_start": 4300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16400,
"cdna_start": 13236,
"cds_end": null,
"cds_length": 14721,
"cds_start": 12898,
"consequences": [
"missense_variant"
],
"exon_count": 104,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "XM_006711808.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12898G>A",
"hgvs_p": "p.Glu4300Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711871.1",
"strand": true,
"transcript": "XM_006711808.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4896,
"aa_ref": "E",
"aa_start": 4290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16370,
"cdna_start": 13206,
"cds_end": null,
"cds_length": 14691,
"cds_start": 12868,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 88,
"exon_rank_end": null,
"feature": "XM_047427329.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12868G>A",
"hgvs_p": "p.Glu4290Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283285.1",
"strand": true,
"transcript": "XM_047427329.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4894,
"aa_ref": "E",
"aa_start": 4288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16364,
"cdna_start": 13200,
"cds_end": null,
"cds_length": 14685,
"cds_start": 12862,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 88,
"exon_rank_end": null,
"feature": "XM_047427333.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12862G>A",
"hgvs_p": "p.Glu4288Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283289.1",
"strand": true,
"transcript": "XM_047427333.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4886,
"aa_ref": "E",
"aa_start": 4280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16340,
"cdna_start": 13176,
"cds_end": null,
"cds_length": 14661,
"cds_start": 12838,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 87,
"exon_rank_end": null,
"feature": "XM_047427336.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12838G>A",
"hgvs_p": "p.Glu4280Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283292.1",
"strand": true,
"transcript": "XM_047427336.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4884,
"aa_ref": "E",
"aa_start": 4278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16334,
"cdna_start": 13170,
"cds_end": null,
"cds_length": 14655,
"cds_start": 12832,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 87,
"exon_rank_end": null,
"feature": "XM_047427337.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12832G>A",
"hgvs_p": "p.Glu4278Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283293.1",
"strand": true,
"transcript": "XM_047427337.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 4876,
"aa_ref": "E",
"aa_start": 4270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16310,
"cdna_start": 13146,
"cds_end": null,
"cds_length": 14631,
"cds_start": 12808,
"consequences": [
"missense_variant"
],
"exon_count": 101,
"exon_rank": 86,
"exon_rank_end": null,
"feature": "XM_047427341.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12808G>A",
"hgvs_p": "p.Glu4270Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283297.1",
"strand": true,
"transcript": "XM_047427341.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1204,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000741291.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000296715",
"hgvs_c": "n.140-117C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000741291.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs794728795",
"effect": "missense_variant",
"frequency_reference_population": 0.0000043454615,
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000342742,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131532,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.463,
"pos": 237784793,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.581,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001035.3"
}
]
}