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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: 15-33838443-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=33838443&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 33838443,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000634891.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12463G>A",
"hgvs_p": "p.Asp4155Asn",
"transcript": "NM_001036.6",
"protein_id": "NP_001027.3",
"transcript_support_level": null,
"aa_start": 4155,
"aa_end": null,
"aa_length": 4870,
"cds_start": 12463,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 12542,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "ENST00000634891.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12463G>A",
"hgvs_p": "p.Asp4155Asn",
"transcript": "ENST00000634891.2",
"protein_id": "ENSP00000489262.1",
"transcript_support_level": 1,
"aa_start": 4155,
"aa_end": null,
"aa_length": 4870,
"cds_start": 12463,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 12542,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "NM_001036.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12460G>A",
"hgvs_p": "p.Asp4154Asn",
"transcript": "ENST00000389232.9",
"protein_id": "ENSP00000373884.5",
"transcript_support_level": 5,
"aa_start": 4154,
"aa_end": null,
"aa_length": 4869,
"cds_start": 12460,
"cds_end": null,
"cds_length": 14610,
"cdna_start": 12530,
"cdna_end": null,
"cdna_length": 15552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12448G>A",
"hgvs_p": "p.Asp4150Asn",
"transcript": "NM_001243996.4",
"protein_id": "NP_001230925.1",
"transcript_support_level": null,
"aa_start": 4150,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12448,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 12527,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12448G>A",
"hgvs_p": "p.Asp4150Asn",
"transcript": "ENST00000415757.7",
"protein_id": "ENSP00000399610.3",
"transcript_support_level": 2,
"aa_start": 4150,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12448,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 12532,
"cdna_end": null,
"cdna_length": 15557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12430G>A",
"hgvs_p": "p.Asp4144Asn",
"transcript": "ENST00000634418.1",
"protein_id": "ENSP00000489529.1",
"transcript_support_level": 5,
"aa_start": 4144,
"aa_end": null,
"aa_length": 4859,
"cds_start": 12430,
"cds_end": null,
"cds_length": 14580,
"cdna_start": 12430,
"cdna_end": null,
"cdna_length": 15078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12451G>A",
"hgvs_p": "p.Asp4151Asn",
"transcript": "XM_017022468.2",
"protein_id": "XP_016877957.1",
"transcript_support_level": null,
"aa_start": 4151,
"aa_end": null,
"aa_length": 4866,
"cds_start": 12451,
"cds_end": null,
"cds_length": 14601,
"cdna_start": 12530,
"cdna_end": null,
"cdna_length": 15556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12448G>A",
"hgvs_p": "p.Asp4150Asn",
"transcript": "XM_017022469.2",
"protein_id": "XP_016877958.1",
"transcript_support_level": null,
"aa_start": 4150,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12448,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 12527,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12448G>A",
"hgvs_p": "p.Asp4150Asn",
"transcript": "XM_017022470.3",
"protein_id": "XP_016877959.1",
"transcript_support_level": null,
"aa_start": 4150,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12448,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 15950,
"cdna_end": null,
"cdna_length": 18976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12448G>A",
"hgvs_p": "p.Asp4150Asn",
"transcript": "XM_017022471.2",
"protein_id": "XP_016877960.1",
"transcript_support_level": null,
"aa_start": 4150,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12448,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 12527,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12445G>A",
"hgvs_p": "p.Asp4149Asn",
"transcript": "XM_017022472.2",
"protein_id": "XP_016877961.1",
"transcript_support_level": null,
"aa_start": 4149,
"aa_end": null,
"aa_length": 4864,
"cds_start": 12445,
"cds_end": null,
"cds_length": 14595,
"cdna_start": 12524,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12445G>A",
"hgvs_p": "p.Asp4149Asn",
"transcript": "XM_024450015.2",
"protein_id": "XP_024305783.1",
"transcript_support_level": null,
"aa_start": 4149,
"aa_end": null,
"aa_length": 4864,
"cds_start": 12445,
"cds_end": null,
"cds_length": 14595,
"cdna_start": 12524,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12442G>A",
"hgvs_p": "p.Asp4148Asn",
"transcript": "XM_024450016.2",
"protein_id": "XP_024305784.1",
"transcript_support_level": null,
"aa_start": 4148,
"aa_end": null,
"aa_length": 4863,
"cds_start": 12442,
"cds_end": null,
"cds_length": 14592,
"cdna_start": 12521,
"cdna_end": null,
"cdna_length": 15547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12433G>A",
"hgvs_p": "p.Asp4145Asn",
"transcript": "XM_017022473.2",
"protein_id": "XP_016877962.1",
"transcript_support_level": null,
"aa_start": 4145,
"aa_end": null,
"aa_length": 4860,
"cds_start": 12433,
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"cds_length": 14583,
"cdna_start": 12512,
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"cdna_length": 15538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12430G>A",
"hgvs_p": "p.Asp4144Asn",
"transcript": "XM_011521880.3",
"protein_id": "XP_011520182.1",
"transcript_support_level": null,
"aa_start": 4144,
"aa_end": null,
"aa_length": 4859,
"cds_start": 12430,
"cds_end": null,
"cds_length": 14580,
"cdna_start": 12509,
"cdna_end": null,
"cdna_length": 15535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12430G>A",
"hgvs_p": "p.Asp4144Asn",
"transcript": "XM_017022474.2",
"protein_id": "XP_016877963.1",
"transcript_support_level": null,
"aa_start": 4144,
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"cds_start": 12430,
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"cdna_start": 12687,
"cdna_end": null,
"cdna_length": 15713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12451G>A",
"hgvs_p": "p.Asp4151Asn",
"transcript": "XM_047432931.1",
"protein_id": "XP_047288887.1",
"transcript_support_level": null,
"aa_start": 4151,
"aa_end": null,
"aa_length": 4838,
"cds_start": 12451,
"cds_end": null,
"cds_length": 14517,
"cdna_start": 12530,
"cdna_end": null,
"cdna_length": 16497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12451G>A",
"hgvs_p": "p.Asp4151Asn",
"transcript": "XM_017022475.2",
"protein_id": "XP_016877964.1",
"transcript_support_level": null,
"aa_start": 4151,
"aa_end": null,
"aa_length": 4837,
"cds_start": 12451,
"cds_end": null,
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"cdna_start": 12530,
"cdna_end": null,
"cdna_length": 15469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12433G>A",
"hgvs_p": "p.Asp4145Asn",
"transcript": "XM_047432932.1",
"protein_id": "XP_047288888.1",
"transcript_support_level": null,
"aa_start": 4145,
"aa_end": null,
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"cds_start": 12433,
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"cdna_start": 12512,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12343G>A",
"hgvs_p": "p.Asp4115Asn",
"transcript": "XM_017022476.2",
"protein_id": "XP_016877965.1",
"transcript_support_level": null,
"aa_start": 4115,
"aa_end": null,
"aa_length": 4830,
"cds_start": 12343,
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"cds_length": 14493,
"cdna_start": 12422,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12451G>A",
"hgvs_p": "p.Asp4151Asn",
"transcript": "XM_047432933.1",
"protein_id": "XP_047288889.1",
"transcript_support_level": null,
"aa_start": 4151,
"aa_end": null,
"aa_length": 4402,
"cds_start": 12451,
"cds_end": null,
"cds_length": 13209,
"cdna_start": 12530,
"cdna_end": null,
"cdna_length": 13377,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "n.989G>A",
"hgvs_p": null,
"transcript": "ENST00000635749.1",
"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": 3714,
"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": 44,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
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},
{
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},
{
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},
{
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"gene_symbol": "RYR3",
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},
{
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"gene_symbol": "RYR3",
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},
{
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],
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"gene_symbol": "RYR3",
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}
],
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"dbsnp": "rs200893645",
"frequency_reference_population": 0.00009417748,
"hom_count_reference_population": 1,
"allele_count_reference_population": 152,
"gnomad_exomes_af": 0.0000944109,
"gnomad_genomes_af": 0.0000919371,
"gnomad_exomes_ac": 138,
"gnomad_genomes_ac": 14,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006750345230102539,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.175,
"revel_prediction": "Benign",
"alphamissense_score": 0.0648,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.908,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000634891.2",
"gene_symbol": "RYR3",
"hgnc_id": 10485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.12463G>A",
"hgvs_p": "p.Asp4155Asn"
}
],
"clinvar_disease": "Epileptic encephalopathy,RYR3-related disorder,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Epileptic encephalopathy|RYR3-related disorder|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}