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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: 10-87767678-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87767678&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87767678,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000680024.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "NM_001321967.2",
"protein_id": "NP_001308896.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 361,
"cds_start": 826,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "ENST00000680024.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "ENST00000680024.1",
"protein_id": "ENSP00000506333.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 361,
"cds_start": 826,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "NM_001321967.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "ENST00000328142.3",
"protein_id": "ENSP00000339016.2",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 361,
"cds_start": 826,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "NM_032810.4",
"protein_id": "NP_116199.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 361,
"cds_start": 826,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "ENST00000308448.11",
"protein_id": "ENSP00000339017.4",
"transcript_support_level": 2,
"aa_start": 276,
"aa_end": null,
"aa_length": 361,
"cds_start": 826,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.736G>T",
"hgvs_p": "p.Glu246*",
"transcript": "NM_001321968.2",
"protein_id": "NP_001308897.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 331,
"cds_start": 736,
"cds_end": null,
"cds_length": 996,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.469G>T",
"hgvs_p": "p.Glu157*",
"transcript": "NM_001321969.2",
"protein_id": "NP_001308898.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 242,
"cds_start": 469,
"cds_end": null,
"cds_length": 729,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "XM_005270252.6",
"protein_id": "XP_005270309.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 361,
"cds_start": 826,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 4449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "XM_017016847.3",
"protein_id": "XP_016872336.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 361,
"cds_start": 826,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "XM_047425908.1",
"protein_id": "XP_047281864.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 361,
"cds_start": 826,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.736G>T",
"hgvs_p": "p.Glu246*",
"transcript": "XM_017016848.2",
"protein_id": "XP_016872337.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 331,
"cds_start": 736,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "XM_011540302.2",
"protein_id": "XP_011538604.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 303,
"cds_start": 652,
"cds_end": null,
"cds_length": 912,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "XM_011540303.4",
"protein_id": "XP_011538605.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 298,
"cds_start": 826,
"cds_end": null,
"cds_length": 897,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "XM_047425910.1",
"protein_id": "XP_047281866.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 298,
"cds_start": 826,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "XM_047425911.1",
"protein_id": "XP_047281867.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 298,
"cds_start": 826,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*",
"transcript": "XM_047425912.1",
"protein_id": "XP_047281868.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 298,
"cds_start": 826,
"cds_end": null,
"cds_length": 897,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.736G>T",
"hgvs_p": "p.Glu246*",
"transcript": "XM_047425913.1",
"protein_id": "XP_047281869.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 268,
"cds_start": 736,
"cds_end": null,
"cds_length": 807,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.826G>T",
"hgvs_p": null,
"transcript": "ENST00000680388.1",
"protein_id": "ENSP00000505894.1",
"transcript_support_level": null,
"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": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.*490G>T",
"hgvs_p": null,
"transcript": "ENST00000681308.1",
"protein_id": "ENSP00000506112.1",
"transcript_support_level": null,
"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": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.*443G>T",
"hgvs_p": null,
"transcript": "ENST00000681602.1",
"protein_id": "ENSP00000505593.1",
"transcript_support_level": null,
"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": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.826G>T",
"hgvs_p": null,
"transcript": "ENST00000681629.1",
"protein_id": "ENSP00000506152.1",
"transcript_support_level": null,
"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": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.899G>T",
"hgvs_p": null,
"transcript": "NR_135914.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4421,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902476",
"gene_hgnc_id": null,
"hgvs_c": "n.1C>A",
"hgvs_p": null,
"transcript": "XR_007062224.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.*490G>T",
"hgvs_p": null,
"transcript": "ENST00000681308.1",
"protein_id": "ENSP00000506112.1",
"transcript_support_level": null,
"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": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.*443G>T",
"hgvs_p": null,
"transcript": "ENST00000681602.1",
"protein_id": "ENSP00000505593.1",
"transcript_support_level": null,
"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": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"dbsnp": "rs1554874859",
"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": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.169,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000680024.1",
"gene_symbol": "ATAD1",
"hgnc_id": 25903,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Glu276*"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_007062224.1",
"gene_symbol": "LOC124902476",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Hyperekplexia 4,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Hyperekplexia 4|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}