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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: 15-33820773-GGATGAAGAAGAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=33820773&ref=GGATGAAGAAGAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 33820773,
"ref": "GGATGAAGAAGAA",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001036.6",
"consequences": [
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10785_10796delAGAAGATGAAGA",
"hgvs_p": "p.Glu3595_Glu3598del",
"transcript": "NM_001036.6",
"protein_id": "NP_001027.3",
"transcript_support_level": null,
"aa_start": 3595,
"aa_end": null,
"aa_length": 4870,
"cds_start": 10785,
"cds_end": null,
"cds_length": 14613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000634891.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001036.6"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10785_10796delAGAAGATGAAGA",
"hgvs_p": "p.Glu3595_Glu3598del",
"transcript": "ENST00000634891.2",
"protein_id": "ENSP00000489262.1",
"transcript_support_level": 1,
"aa_start": 3595,
"aa_end": null,
"aa_length": 4870,
"cds_start": 10785,
"cds_end": null,
"cds_length": 14613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001036.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634891.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10782_10793delAGAAGATGAAGA",
"hgvs_p": "p.Glu3594_Glu3597del",
"transcript": "ENST00000389232.9",
"protein_id": "ENSP00000373884.5",
"transcript_support_level": 5,
"aa_start": 3594,
"aa_end": null,
"aa_length": 4869,
"cds_start": 10782,
"cds_end": null,
"cds_length": 14610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389232.9"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10770_10781delAGAAGATGAAGA",
"hgvs_p": "p.Glu3590_Glu3593del",
"transcript": "NM_001243996.4",
"protein_id": "NP_001230925.1",
"transcript_support_level": null,
"aa_start": 3590,
"aa_end": null,
"aa_length": 4865,
"cds_start": 10770,
"cds_end": null,
"cds_length": 14598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243996.4"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10770_10781delAGAAGATGAAGA",
"hgvs_p": "p.Glu3590_Glu3593del",
"transcript": "ENST00000415757.7",
"protein_id": "ENSP00000399610.3",
"transcript_support_level": 2,
"aa_start": 3590,
"aa_end": null,
"aa_length": 4865,
"cds_start": 10770,
"cds_end": null,
"cds_length": 14598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415757.7"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10770_10781delAGAAGATGAAGA",
"hgvs_p": "p.Glu3590_Glu3593del",
"transcript": "ENST00000634418.1",
"protein_id": "ENSP00000489529.1",
"transcript_support_level": 5,
"aa_start": 3590,
"aa_end": null,
"aa_length": 4859,
"cds_start": 10770,
"cds_end": null,
"cds_length": 14580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634418.1"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10773_10784delAGAAGATGAAGA",
"hgvs_p": "p.Glu3591_Glu3594del",
"transcript": "XM_017022468.2",
"protein_id": "XP_016877957.1",
"transcript_support_level": null,
"aa_start": 3591,
"aa_end": null,
"aa_length": 4866,
"cds_start": 10773,
"cds_end": null,
"cds_length": 14601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022468.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10770_10781delAGAAGATGAAGA",
"hgvs_p": "p.Glu3590_Glu3593del",
"transcript": "XM_017022469.2",
"protein_id": "XP_016877958.1",
"transcript_support_level": null,
"aa_start": 3590,
"aa_end": null,
"aa_length": 4865,
"cds_start": 10770,
"cds_end": null,
"cds_length": 14598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022469.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10770_10781delAGAAGATGAAGA",
"hgvs_p": "p.Glu3590_Glu3593del",
"transcript": "XM_017022470.3",
"protein_id": "XP_016877959.1",
"transcript_support_level": null,
"aa_start": 3590,
"aa_end": null,
"aa_length": 4865,
"cds_start": 10770,
"cds_end": null,
"cds_length": 14598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022470.3"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10770_10781delAGAAGATGAAGA",
"hgvs_p": "p.Glu3590_Glu3593del",
"transcript": "XM_017022471.2",
"protein_id": "XP_016877960.1",
"transcript_support_level": null,
"aa_start": 3590,
"aa_end": null,
"aa_length": 4865,
"cds_start": 10770,
"cds_end": null,
"cds_length": 14598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022471.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10767_10778delAGAAGATGAAGA",
"hgvs_p": "p.Glu3589_Glu3592del",
"transcript": "XM_017022472.2",
"protein_id": "XP_016877961.1",
"transcript_support_level": null,
"aa_start": 3589,
"aa_end": null,
"aa_length": 4864,
"cds_start": 10767,
"cds_end": null,
"cds_length": 14595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022472.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10767_10778delAGAAGATGAAGA",
"hgvs_p": "p.Glu3589_Glu3592del",
"transcript": "XM_024450015.2",
"protein_id": "XP_024305783.1",
"transcript_support_level": null,
"aa_start": 3589,
"aa_end": null,
"aa_length": 4864,
"cds_start": 10767,
"cds_end": null,
"cds_length": 14595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450015.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10764_10775delAGAAGATGAAGA",
"hgvs_p": "p.Glu3588_Glu3591del",
"transcript": "XM_024450016.2",
"protein_id": "XP_024305784.1",
"transcript_support_level": null,
"aa_start": 3588,
"aa_end": null,
"aa_length": 4863,
"cds_start": 10764,
"cds_end": null,
"cds_length": 14592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450016.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10773_10784delAGAAGATGAAGA",
"hgvs_p": "p.Glu3591_Glu3594del",
"transcript": "XM_017022473.2",
"protein_id": "XP_016877962.1",
"transcript_support_level": null,
"aa_start": 3591,
"aa_end": null,
"aa_length": 4860,
"cds_start": 10773,
"cds_end": null,
"cds_length": 14583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022473.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10770_10781delAGAAGATGAAGA",
"hgvs_p": "p.Glu3590_Glu3593del",
"transcript": "XM_011521880.3",
"protein_id": "XP_011520182.1",
"transcript_support_level": null,
"aa_start": 3590,
"aa_end": null,
"aa_length": 4859,
"cds_start": 10770,
"cds_end": null,
"cds_length": 14580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521880.3"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10752_10763delAGAAGATGAAGA",
"hgvs_p": "p.Glu3584_Glu3587del",
"transcript": "XM_017022474.2",
"protein_id": "XP_016877963.1",
"transcript_support_level": null,
"aa_start": 3584,
"aa_end": null,
"aa_length": 4859,
"cds_start": 10752,
"cds_end": null,
"cds_length": 14580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022474.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10773_10784delAGAAGATGAAGA",
"hgvs_p": "p.Glu3591_Glu3594del",
"transcript": "XM_047432931.1",
"protein_id": "XP_047288887.1",
"transcript_support_level": null,
"aa_start": 3591,
"aa_end": null,
"aa_length": 4838,
"cds_start": 10773,
"cds_end": null,
"cds_length": 14517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432931.1"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10773_10784delAGAAGATGAAGA",
"hgvs_p": "p.Glu3591_Glu3594del",
"transcript": "XM_017022475.2",
"protein_id": "XP_016877964.1",
"transcript_support_level": null,
"aa_start": 3591,
"aa_end": null,
"aa_length": 4837,
"cds_start": 10773,
"cds_end": null,
"cds_length": 14514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022475.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10773_10784delAGAAGATGAAGA",
"hgvs_p": "p.Glu3591_Glu3594del",
"transcript": "XM_047432932.1",
"protein_id": "XP_047288888.1",
"transcript_support_level": null,
"aa_start": 3591,
"aa_end": null,
"aa_length": 4831,
"cds_start": 10773,
"cds_end": null,
"cds_length": 14496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432932.1"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10665_10676delAGAAGATGAAGA",
"hgvs_p": "p.Glu3555_Glu3558del",
"transcript": "XM_017022476.2",
"protein_id": "XP_016877965.1",
"transcript_support_level": null,
"aa_start": 3555,
"aa_end": null,
"aa_length": 4830,
"cds_start": 10665,
"cds_end": null,
"cds_length": 14493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022476.2"
},
{
"aa_ref": "EEDED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.10773_10784delAGAAGATGAAGA",
"hgvs_p": "p.Glu3591_Glu3594del",
"transcript": "XM_047432933.1",
"protein_id": "XP_047288889.1",
"transcript_support_level": null,
"aa_start": 3591,
"aa_end": null,
"aa_length": 4402,
"cds_start": 10773,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 77,
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"intron_rank": null,
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"hgvs_c": "c.10773_10784delAGAAGATGAAGA",
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"transcript": "XM_017022477.2",
"protein_id": "XP_016877966.1",
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"feature": "XM_017022477.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
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"gene_symbol": "RYR3",
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"transcript": "ENST00000557931.1",
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"biotype": "retained_intron",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 59,
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"hgvs_c": "n.*825_*836delAGAAGATGAAGA",
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"transcript": "ENST00000635790.1",
"protein_id": "ENSP00000489672.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635790.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 77,
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"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
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"protein_id": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001751370.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "n.*825_*836delAGAAGATGAAGA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635790.1"
}
],
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"dbsnp": "rs1415731316",
"frequency_reference_population": 0.0000065756594,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657566,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.654,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001036.6",
"gene_symbol": "RYR3",
"hgnc_id": 10485,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.10785_10796delAGAAGATGAAGA",
"hgvs_p": "p.Glu3595_Glu3598del"
}
],
"clinvar_disease": "Epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Epileptic encephalopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}