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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: 15-33831048-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=33831048&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 33831048,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000634891.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11420C>A",
"hgvs_p": "p.Ala3807Glu",
"transcript": "NM_001036.6",
"protein_id": "NP_001027.3",
"transcript_support_level": null,
"aa_start": 3807,
"aa_end": null,
"aa_length": 4870,
"cds_start": 11420,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 11499,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "ENST00000634891.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11420C>A",
"hgvs_p": "p.Ala3807Glu",
"transcript": "ENST00000634891.2",
"protein_id": "ENSP00000489262.1",
"transcript_support_level": 1,
"aa_start": 3807,
"aa_end": null,
"aa_length": 4870,
"cds_start": 11420,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 11499,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "NM_001036.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11417C>A",
"hgvs_p": "p.Ala3806Glu",
"transcript": "ENST00000389232.9",
"protein_id": "ENSP00000373884.5",
"transcript_support_level": 5,
"aa_start": 3806,
"aa_end": null,
"aa_length": 4869,
"cds_start": 11417,
"cds_end": null,
"cds_length": 14610,
"cdna_start": 11487,
"cdna_end": null,
"cdna_length": 15552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11405C>A",
"hgvs_p": "p.Ala3802Glu",
"transcript": "NM_001243996.4",
"protein_id": "NP_001230925.1",
"transcript_support_level": null,
"aa_start": 3802,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11405,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 11484,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11405C>A",
"hgvs_p": "p.Ala3802Glu",
"transcript": "ENST00000415757.7",
"protein_id": "ENSP00000399610.3",
"transcript_support_level": 2,
"aa_start": 3802,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11405,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 11489,
"cdna_end": null,
"cdna_length": 15557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11387C>A",
"hgvs_p": "p.Ala3796Glu",
"transcript": "ENST00000634418.1",
"protein_id": "ENSP00000489529.1",
"transcript_support_level": 5,
"aa_start": 3796,
"aa_end": null,
"aa_length": 4859,
"cds_start": 11387,
"cds_end": null,
"cds_length": 14580,
"cdna_start": 11387,
"cdna_end": null,
"cdna_length": 15078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11408C>A",
"hgvs_p": "p.Ala3803Glu",
"transcript": "XM_017022468.2",
"protein_id": "XP_016877957.1",
"transcript_support_level": null,
"aa_start": 3803,
"aa_end": null,
"aa_length": 4866,
"cds_start": 11408,
"cds_end": null,
"cds_length": 14601,
"cdna_start": 11487,
"cdna_end": null,
"cdna_length": 15556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11405C>A",
"hgvs_p": "p.Ala3802Glu",
"transcript": "XM_017022469.2",
"protein_id": "XP_016877958.1",
"transcript_support_level": null,
"aa_start": 3802,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11405,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 11484,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11405C>A",
"hgvs_p": "p.Ala3802Glu",
"transcript": "XM_017022470.3",
"protein_id": "XP_016877959.1",
"transcript_support_level": null,
"aa_start": 3802,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11405,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 14907,
"cdna_end": null,
"cdna_length": 18976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11405C>A",
"hgvs_p": "p.Ala3802Glu",
"transcript": "XM_017022471.2",
"protein_id": "XP_016877960.1",
"transcript_support_level": null,
"aa_start": 3802,
"aa_end": null,
"aa_length": 4865,
"cds_start": 11405,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 11484,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11402C>A",
"hgvs_p": "p.Ala3801Glu",
"transcript": "XM_017022472.2",
"protein_id": "XP_016877961.1",
"transcript_support_level": null,
"aa_start": 3801,
"aa_end": null,
"aa_length": 4864,
"cds_start": 11402,
"cds_end": null,
"cds_length": 14595,
"cdna_start": 11481,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11402C>A",
"hgvs_p": "p.Ala3801Glu",
"transcript": "XM_024450015.2",
"protein_id": "XP_024305783.1",
"transcript_support_level": null,
"aa_start": 3801,
"aa_end": null,
"aa_length": 4864,
"cds_start": 11402,
"cds_end": null,
"cds_length": 14595,
"cdna_start": 11481,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11399C>A",
"hgvs_p": "p.Ala3800Glu",
"transcript": "XM_024450016.2",
"protein_id": "XP_024305784.1",
"transcript_support_level": null,
"aa_start": 3800,
"aa_end": null,
"aa_length": 4863,
"cds_start": 11399,
"cds_end": null,
"cds_length": 14592,
"cdna_start": 11478,
"cdna_end": null,
"cdna_length": 15547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11390C>A",
"hgvs_p": "p.Ala3797Glu",
"transcript": "XM_017022473.2",
"protein_id": "XP_016877962.1",
"transcript_support_level": null,
"aa_start": 3797,
"aa_end": null,
"aa_length": 4860,
"cds_start": 11390,
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"cdna_start": 11469,
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"cdna_length": 15538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11387C>A",
"hgvs_p": "p.Ala3796Glu",
"transcript": "XM_011521880.3",
"protein_id": "XP_011520182.1",
"transcript_support_level": null,
"aa_start": 3796,
"aa_end": null,
"aa_length": 4859,
"cds_start": 11387,
"cds_end": null,
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"cdna_start": 11466,
"cdna_end": null,
"cdna_length": 15535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11387C>A",
"hgvs_p": "p.Ala3796Glu",
"transcript": "XM_017022474.2",
"protein_id": "XP_016877963.1",
"transcript_support_level": null,
"aa_start": 3796,
"aa_end": null,
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"cdna_start": 11644,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"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.11408C>A",
"hgvs_p": "p.Ala3803Glu",
"transcript": "XM_047432931.1",
"protein_id": "XP_047288887.1",
"transcript_support_level": null,
"aa_start": 3803,
"aa_end": null,
"aa_length": 4838,
"cds_start": 11408,
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"cds_length": 14517,
"cdna_start": 11487,
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"cdna_length": 16497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"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.11408C>A",
"hgvs_p": "p.Ala3803Glu",
"transcript": "XM_017022475.2",
"protein_id": "XP_016877964.1",
"transcript_support_level": null,
"aa_start": 3803,
"aa_end": null,
"aa_length": 4837,
"cds_start": 11408,
"cds_end": null,
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"cdna_start": 11487,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11390C>A",
"hgvs_p": "p.Ala3797Glu",
"transcript": "XM_047432932.1",
"protein_id": "XP_047288888.1",
"transcript_support_level": null,
"aa_start": 3797,
"aa_end": null,
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"cds_start": 11390,
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"cdna_start": 11469,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11300C>A",
"hgvs_p": "p.Ala3767Glu",
"transcript": "XM_017022476.2",
"protein_id": "XP_016877965.1",
"transcript_support_level": null,
"aa_start": 3767,
"aa_end": null,
"aa_length": 4830,
"cds_start": 11300,
"cds_end": null,
"cds_length": 14493,
"cdna_start": 11379,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11408C>A",
"hgvs_p": "p.Ala3803Glu",
"transcript": "XM_047432933.1",
"protein_id": "XP_047288889.1",
"transcript_support_level": null,
"aa_start": 3803,
"aa_end": null,
"aa_length": 4402,
"cds_start": 11408,
"cds_end": null,
"cds_length": 13209,
"cdna_start": 11487,
"cdna_end": null,
"cdna_length": 13377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.11408C>A",
"hgvs_p": "p.Ala3803Glu",
"transcript": "XM_017022477.2",
"protein_id": "XP_016877966.1",
"transcript_support_level": null,
"aa_start": 3803,
"aa_end": null,
"aa_length": 3855,
"cds_start": 11408,
"cds_end": null,
"cds_length": 11568,
"cdna_start": 11487,
"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": 42,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "n.*1460C>A",
"hgvs_p": null,
"transcript": "ENST00000635790.1",
"protein_id": "ENSP00000489672.1",
"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": 8528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "n.*1460C>A",
"hgvs_p": null,
"transcript": "ENST00000635790.1",
"protein_id": "ENSP00000489672.1",
"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": 8528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "n.*55C>A",
"hgvs_p": null,
"transcript": "ENST00000638145.1",
"protein_id": null,
"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": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"dbsnp": "rs757214631",
"frequency_reference_population": 0.00003966429,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000417424,
"gnomad_genomes_af": 0.0000197112,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3433624804019928,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.397,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2536,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.324,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000634891.2",
"gene_symbol": "RYR3",
"hgnc_id": 10485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.11420C>A",
"hgvs_p": "p.Ala3807Glu"
}
],
"clinvar_disease": "Epileptic encephalopathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Epileptic encephalopathy|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}