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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: 15-33835049-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=33835049&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 33835049,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000634891.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11545A>G",
"hgvs_p": "p.Asn3849Asp",
"transcript": "NM_001036.6",
"protein_id": "NP_001027.3",
"transcript_support_level": null,
"aa_start": 3849,
"aa_end": null,
"aa_length": 4870,
"cds_start": 11545,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 11624,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "ENST00000634891.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11545A>G",
"hgvs_p": "p.Asn3849Asp",
"transcript": "ENST00000634891.2",
"protein_id": "ENSP00000489262.1",
"transcript_support_level": 1,
"aa_start": 3849,
"aa_end": null,
"aa_length": 4870,
"cds_start": 11545,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 11624,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "NM_001036.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11542A>G",
"hgvs_p": "p.Asn3848Asp",
"transcript": "ENST00000389232.9",
"protein_id": "ENSP00000373884.5",
"transcript_support_level": 5,
"aa_start": 3848,
"aa_end": null,
"aa_length": 4869,
"cds_start": 11542,
"cds_end": null,
"cds_length": 14610,
"cdna_start": 11612,
"cdna_end": null,
"cdna_length": 15552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11530A>G",
"hgvs_p": "p.Asn3844Asp",
"transcript": "NM_001243996.4",
"protein_id": "NP_001230925.1",
"transcript_support_level": null,
"aa_start": 3844,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11530,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 11609,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11530A>G",
"hgvs_p": "p.Asn3844Asp",
"transcript": "ENST00000415757.7",
"protein_id": "ENSP00000399610.3",
"transcript_support_level": 2,
"aa_start": 3844,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11530,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 11614,
"cdna_end": null,
"cdna_length": 15557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11512A>G",
"hgvs_p": "p.Asn3838Asp",
"transcript": "ENST00000634418.1",
"protein_id": "ENSP00000489529.1",
"transcript_support_level": 5,
"aa_start": 3838,
"aa_end": null,
"aa_length": 4859,
"cds_start": 11512,
"cds_end": null,
"cds_length": 14580,
"cdna_start": 11512,
"cdna_end": null,
"cdna_length": 15078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11533A>G",
"hgvs_p": "p.Asn3845Asp",
"transcript": "XM_017022468.2",
"protein_id": "XP_016877957.1",
"transcript_support_level": null,
"aa_start": 3845,
"aa_end": null,
"aa_length": 4866,
"cds_start": 11533,
"cds_end": null,
"cds_length": 14601,
"cdna_start": 11612,
"cdna_end": null,
"cdna_length": 15556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11530A>G",
"hgvs_p": "p.Asn3844Asp",
"transcript": "XM_017022469.2",
"protein_id": "XP_016877958.1",
"transcript_support_level": null,
"aa_start": 3844,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11530,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 11609,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11530A>G",
"hgvs_p": "p.Asn3844Asp",
"transcript": "XM_017022470.3",
"protein_id": "XP_016877959.1",
"transcript_support_level": null,
"aa_start": 3844,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11530,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 15032,
"cdna_end": null,
"cdna_length": 18976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11530A>G",
"hgvs_p": "p.Asn3844Asp",
"transcript": "XM_017022471.2",
"protein_id": "XP_016877960.1",
"transcript_support_level": null,
"aa_start": 3844,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11530,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 11609,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11527A>G",
"hgvs_p": "p.Asn3843Asp",
"transcript": "XM_017022472.2",
"protein_id": "XP_016877961.1",
"transcript_support_level": null,
"aa_start": 3843,
"aa_end": null,
"aa_length": 4864,
"cds_start": 11527,
"cds_end": null,
"cds_length": 14595,
"cdna_start": 11606,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11527A>G",
"hgvs_p": "p.Asn3843Asp",
"transcript": "XM_024450015.2",
"protein_id": "XP_024305783.1",
"transcript_support_level": null,
"aa_start": 3843,
"aa_end": null,
"aa_length": 4864,
"cds_start": 11527,
"cds_end": null,
"cds_length": 14595,
"cdna_start": 11606,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11524A>G",
"hgvs_p": "p.Asn3842Asp",
"transcript": "XM_024450016.2",
"protein_id": "XP_024305784.1",
"transcript_support_level": null,
"aa_start": 3842,
"aa_end": null,
"aa_length": 4863,
"cds_start": 11524,
"cds_end": null,
"cds_length": 14592,
"cdna_start": 11603,
"cdna_end": null,
"cdna_length": 15547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11515A>G",
"hgvs_p": "p.Asn3839Asp",
"transcript": "XM_017022473.2",
"protein_id": "XP_016877962.1",
"transcript_support_level": null,
"aa_start": 3839,
"aa_end": null,
"aa_length": 4860,
"cds_start": 11515,
"cds_end": null,
"cds_length": 14583,
"cdna_start": 11594,
"cdna_end": null,
"cdna_length": 15538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11512A>G",
"hgvs_p": "p.Asn3838Asp",
"transcript": "XM_011521880.3",
"protein_id": "XP_011520182.1",
"transcript_support_level": null,
"aa_start": 3838,
"aa_end": null,
"aa_length": 4859,
"cds_start": 11512,
"cds_end": null,
"cds_length": 14580,
"cdna_start": 11591,
"cdna_end": null,
"cdna_length": 15535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11512A>G",
"hgvs_p": "p.Asn3838Asp",
"transcript": "XM_017022474.2",
"protein_id": "XP_016877963.1",
"transcript_support_level": null,
"aa_start": 3838,
"aa_end": null,
"aa_length": 4859,
"cds_start": 11512,
"cds_end": null,
"cds_length": 14580,
"cdna_start": 11769,
"cdna_end": null,
"cdna_length": 15713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11533A>G",
"hgvs_p": "p.Asn3845Asp",
"transcript": "XM_047432931.1",
"protein_id": "XP_047288887.1",
"transcript_support_level": null,
"aa_start": 3845,
"aa_end": null,
"aa_length": 4838,
"cds_start": 11533,
"cds_end": null,
"cds_length": 14517,
"cdna_start": 11612,
"cdna_end": null,
"cdna_length": 16497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11533A>G",
"hgvs_p": "p.Asn3845Asp",
"transcript": "XM_017022475.2",
"protein_id": "XP_016877964.1",
"transcript_support_level": null,
"aa_start": 3845,
"aa_end": null,
"aa_length": 4837,
"cds_start": 11533,
"cds_end": null,
"cds_length": 14514,
"cdna_start": 11612,
"cdna_end": null,
"cdna_length": 15469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11515A>G",
"hgvs_p": "p.Asn3839Asp",
"transcript": "XM_047432932.1",
"protein_id": "XP_047288888.1",
"transcript_support_level": null,
"aa_start": 3839,
"aa_end": null,
"aa_length": 4831,
"cds_start": 11515,
"cds_end": null,
"cds_length": 14496,
"cdna_start": 11594,
"cdna_end": null,
"cdna_length": 15451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11425A>G",
"hgvs_p": "p.Asn3809Asp",
"transcript": "XM_017022476.2",
"protein_id": "XP_016877965.1",
"transcript_support_level": null,
"aa_start": 3809,
"aa_end": null,
"aa_length": 4830,
"cds_start": 11425,
"cds_end": null,
"cds_length": 14493,
"cdna_start": 11504,
"cdna_end": null,
"cdna_length": 15448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11533A>G",
"hgvs_p": "p.Asn3845Asp",
"transcript": "XM_047432933.1",
"protein_id": "XP_047288889.1",
"transcript_support_level": null,
"aa_start": 3845,
"aa_end": null,
"aa_length": 4402,
"cds_start": 11533,
"cds_end": null,
"cds_length": 13209,
"cdna_start": 11612,
"cdna_end": null,
"cdna_length": 13377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11533A>G",
"hgvs_p": "p.Asn3845Asp",
"transcript": "XM_017022477.2",
"protein_id": "XP_016877966.1",
"transcript_support_level": null,
"aa_start": 3845,
"aa_end": null,
"aa_length": 3855,
"cds_start": 11533,
"cds_end": null,
"cds_length": 11568,
"cdna_start": 11612,
"cdna_end": null,
"cdna_length": 11743,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RYR3",
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"transcript": "ENST00000635790.1",
"protein_id": "ENSP00000489672.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
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"gene_symbol": "RYR3",
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"transcript": "ENST00000635790.1",
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"mane_plus": null,
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"feature": null
}
],
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"dbsnp": "rs202181075",
"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": 0.8707712888717651,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.609,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6949,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.248,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000634891.2",
"gene_symbol": "RYR3",
"hgnc_id": 10485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.11545A>G",
"hgvs_p": "p.Asn3849Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}