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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: 1-237778726-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=237778726&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 237778726,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000366574.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11836G>C",
"hgvs_p": "p.Gly3946Arg",
"transcript": "NM_001035.3",
"protein_id": "NP_001026.2",
"transcript_support_level": null,
"aa_start": 3946,
"aa_end": null,
"aa_length": 4967,
"cds_start": 11836,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 12174,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "ENST00000366574.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11836G>C",
"hgvs_p": "p.Gly3946Arg",
"transcript": "ENST00000366574.7",
"protein_id": "ENSP00000355533.2",
"transcript_support_level": 1,
"aa_start": 3946,
"aa_end": null,
"aa_length": 4967,
"cds_start": 11836,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 12174,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "NM_001035.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11860G>C",
"hgvs_p": "p.Gly3954Arg",
"transcript": "ENST00000661330.2",
"protein_id": "ENSP00000499393.2",
"transcript_support_level": null,
"aa_start": 3954,
"aa_end": null,
"aa_length": 4973,
"cds_start": 11860,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 12198,
"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": 87,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*2928G>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": 87,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*2928G>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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11857G>C",
"hgvs_p": "p.Gly3953Arg",
"transcript": "ENST00000660292.2",
"protein_id": "ENSP00000499787.2",
"transcript_support_level": null,
"aa_start": 3953,
"aa_end": null,
"aa_length": 4974,
"cds_start": 11857,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 12195,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11854G>C",
"hgvs_p": "p.Gly3952Arg",
"transcript": "ENST00000714021.1",
"protein_id": "ENSP00000519311.1",
"transcript_support_level": null,
"aa_start": 3952,
"aa_end": null,
"aa_length": 4973,
"cds_start": 11854,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 12192,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11824G>C",
"hgvs_p": "p.Gly3942Arg",
"transcript": "ENST00000659194.3",
"protein_id": "ENSP00000499653.3",
"transcript_support_level": null,
"aa_start": 3942,
"aa_end": null,
"aa_length": 4961,
"cds_start": 11824,
"cds_end": null,
"cds_length": 14886,
"cdna_start": 12162,
"cdna_end": null,
"cdna_length": 16565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11800G>C",
"hgvs_p": "p.Gly3934Arg",
"transcript": "ENST00000714019.1",
"protein_id": "ENSP00000519309.1",
"transcript_support_level": null,
"aa_start": 3934,
"aa_end": null,
"aa_length": 4955,
"cds_start": 11800,
"cds_end": null,
"cds_length": 14868,
"cdna_start": 12138,
"cdna_end": null,
"cdna_length": 16547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11725G>C",
"hgvs_p": "p.Gly3909Arg",
"transcript": "ENST00000714018.1",
"protein_id": "ENSP00000519308.1",
"transcript_support_level": null,
"aa_start": 3909,
"aa_end": null,
"aa_length": 4930,
"cds_start": 11725,
"cds_end": null,
"cds_length": 14793,
"cdna_start": 12063,
"cdna_end": null,
"cdna_length": 16472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.9871G>C",
"hgvs_p": "p.Gly3291Arg",
"transcript": "ENST00000714022.1",
"protein_id": "ENSP00000519312.1",
"transcript_support_level": null,
"aa_start": 3291,
"aa_end": null,
"aa_length": 4312,
"cds_start": 9871,
"cds_end": null,
"cds_length": 12939,
"cdna_start": 10303,
"cdna_end": null,
"cdna_length": 14712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11890G>C",
"hgvs_p": "p.Gly3964Arg",
"transcript": "XM_006711802.4",
"protein_id": "XP_006711865.1",
"transcript_support_level": null,
"aa_start": 3964,
"aa_end": null,
"aa_length": 4985,
"cds_start": 11890,
"cds_end": null,
"cds_length": 14958,
"cdna_start": 12228,
"cdna_end": null,
"cdna_length": 16637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11887G>C",
"hgvs_p": "p.Gly3963Arg",
"transcript": "XM_006711803.4",
"protein_id": "XP_006711866.1",
"transcript_support_level": null,
"aa_start": 3963,
"aa_end": null,
"aa_length": 4984,
"cds_start": 11887,
"cds_end": null,
"cds_length": 14955,
"cdna_start": 12225,
"cdna_end": null,
"cdna_length": 16634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11869G>C",
"hgvs_p": "p.Gly3957Arg",
"transcript": "XM_017002028.2",
"protein_id": "XP_016857517.1",
"transcript_support_level": null,
"aa_start": 3957,
"aa_end": null,
"aa_length": 4978,
"cds_start": 11869,
"cds_end": null,
"cds_length": 14937,
"cdna_start": 12207,
"cdna_end": null,
"cdna_length": 16616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11866G>C",
"hgvs_p": "p.Gly3956Arg",
"transcript": "XM_006711804.4",
"protein_id": "XP_006711867.1",
"transcript_support_level": null,
"aa_start": 3956,
"aa_end": null,
"aa_length": 4977,
"cds_start": 11866,
"cds_end": null,
"cds_length": 14934,
"cdna_start": 12204,
"cdna_end": null,
"cdna_length": 16613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11860G>C",
"hgvs_p": "p.Gly3954Arg",
"transcript": "XM_006711805.4",
"protein_id": "XP_006711868.1",
"transcript_support_level": null,
"aa_start": 3954,
"aa_end": null,
"aa_length": 4975,
"cds_start": 11860,
"cds_end": null,
"cds_length": 14928,
"cdna_start": 12198,
"cdna_end": null,
"cdna_length": 16607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11857G>C",
"hgvs_p": "p.Gly3953Arg",
"transcript": "XM_047427317.1",
"protein_id": "XP_047283273.1",
"transcript_support_level": null,
"aa_start": 3953,
"aa_end": null,
"aa_length": 4974,
"cds_start": 11857,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 12195,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11854G>C",
"hgvs_p": "p.Gly3952Arg",
"transcript": "XM_006711806.4",
"protein_id": "XP_006711869.1",
"transcript_support_level": null,
"aa_start": 3952,
"aa_end": null,
"aa_length": 4973,
"cds_start": 11854,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 12192,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11830G>C",
"hgvs_p": "p.Gly3944Arg",
"transcript": "XM_006711807.4",
"protein_id": "XP_006711870.1",
"transcript_support_level": null,
"aa_start": 3944,
"aa_end": null,
"aa_length": 4965,
"cds_start": 11830,
"cds_end": null,
"cds_length": 14898,
"cdna_start": 12168,
"cdna_end": null,
"cdna_length": 16577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11797G>C",
"hgvs_p": "p.Gly3933Arg",
"transcript": "XM_006711810.4",
"protein_id": "XP_006711873.1",
"transcript_support_level": null,
"aa_start": 3933,
"aa_end": null,
"aa_length": 4954,
"cds_start": 11797,
"cds_end": null,
"cds_length": 14865,
"cdna_start": 12135,
"cdna_end": null,
"cdna_length": 16544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11653G>C",
"hgvs_p": "p.Gly3885Arg",
"transcript": "XM_006711808.4",
"protein_id": "XP_006711871.1",
"transcript_support_level": null,
"aa_start": 3885,
"aa_end": null,
"aa_length": 4906,
"cds_start": 11653,
"cds_end": null,
"cds_length": 14721,
"cdna_start": 11991,
"cdna_end": null,
"cdna_length": 16400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11623G>C",
"hgvs_p": "p.Gly3875Arg",
"transcript": "XM_047427329.1",
"protein_id": "XP_047283285.1",
"transcript_support_level": null,
"aa_start": 3875,
"aa_end": null,
"aa_length": 4896,
"cds_start": 11623,
"cds_end": null,
"cds_length": 14691,
"cdna_start": 11961,
"cdna_end": null,
"cdna_length": 16370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
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{
"aa_ref": "G",
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"gene_symbol": "RYR2",
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},
{
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"gene_symbol": "RYR2",
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"hgvs_c": "c.11587G>C",
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},
{
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"missense_variant"
],
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"gene_symbol": "RYR2",
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"hgvs_c": "c.11563G>C",
"hgvs_p": "p.Gly3855Arg",
"transcript": "XM_047427341.1",
"protein_id": "XP_047283297.1",
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}
],
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"dbsnp": "rs794728777",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9831315279006958,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.945,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9988,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000366574.7",
"gene_symbol": "RYR2",
"hgnc_id": 10484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.11836G>C",
"hgvs_p": "p.Gly3946Arg"
}
],
"clinvar_disease": "Catecholaminergic polymorphic ventricular tachycardia 1,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Catecholaminergic polymorphic ventricular tachycardia 1|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}