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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: 7-81959325-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=81959325&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 81959325,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366867.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3109C>G",
"hgvs_p": "p.Gln1037Glu",
"transcript": "NM_000722.4",
"protein_id": "NP_000713.2",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3109,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356860.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000722.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3109C>G",
"hgvs_p": "p.Gln1037Glu",
"transcript": "ENST00000356860.8",
"protein_id": "ENSP00000349320.3",
"transcript_support_level": 1,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3109,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000722.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356860.8"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3145C>G",
"hgvs_p": "p.Gln1049Glu",
"transcript": "NM_001366867.1",
"protein_id": "NP_001353796.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3145,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366867.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3145C>G",
"hgvs_p": "p.Gln1049Glu",
"transcript": "ENST00000443883.2",
"protein_id": "ENSP00000409374.2",
"transcript_support_level": 5,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3145,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443883.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3130C>G",
"hgvs_p": "p.Gln1044Glu",
"transcript": "ENST00000957014.1",
"protein_id": "ENSP00000627073.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1098,
"cds_start": 3130,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957014.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3088C>G",
"hgvs_p": "p.Gln1030Glu",
"transcript": "ENST00000855771.1",
"protein_id": "ENSP00000525830.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855771.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3034C>G",
"hgvs_p": "p.Gln1012Glu",
"transcript": "ENST00000957016.1",
"protein_id": "ENSP00000627075.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3034,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957016.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2989C>G",
"hgvs_p": "p.Gln997Glu",
"transcript": "ENST00000705962.1",
"protein_id": "ENSP00000516190.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2989,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705962.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2935C>G",
"hgvs_p": "p.Gln979Glu",
"transcript": "ENST00000957017.1",
"protein_id": "ENSP00000627076.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2935,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957017.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2875C>G",
"hgvs_p": "p.Gln959Glu",
"transcript": "ENST00000705961.1",
"protein_id": "ENSP00000516189.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705961.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2809C>G",
"hgvs_p": "p.Gln937Glu",
"transcript": "ENST00000957015.1",
"protein_id": "ENSP00000627074.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 991,
"cds_start": 2809,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957015.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3166C>G",
"hgvs_p": "p.Gln1056Glu",
"transcript": "XM_006716118.4",
"protein_id": "XP_006716181.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3166,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716118.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3166C>G",
"hgvs_p": "p.Gln1056Glu",
"transcript": "XM_011516570.4",
"protein_id": "XP_011514872.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3166,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516570.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3151C>G",
"hgvs_p": "p.Gln1051Glu",
"transcript": "XM_011516571.4",
"protein_id": "XP_011514873.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516571.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3145C>G",
"hgvs_p": "p.Gln1049Glu",
"transcript": "XM_047420819.1",
"protein_id": "XP_047276775.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3145,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420819.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3130C>G",
"hgvs_p": "p.Gln1044Glu",
"transcript": "XM_011516572.4",
"protein_id": "XP_011514874.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1098,
"cds_start": 3130,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516572.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3094C>G",
"hgvs_p": "p.Gln1032Glu",
"transcript": "XM_005250572.4",
"protein_id": "XP_005250629.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250572.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3094C>G",
"hgvs_p": "p.Gln1032Glu",
"transcript": "XM_047420820.1",
"protein_id": "XP_047276776.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420820.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3088C>G",
"hgvs_p": "p.Gln1030Glu",
"transcript": "XM_005250573.4",
"protein_id": "XP_005250630.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250573.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3088C>G",
"hgvs_p": "p.Gln1030Glu",
"transcript": "XM_047420821.1",
"protein_id": "XP_047276777.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420821.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3073C>G",
"hgvs_p": "p.Gln1025Glu",
"transcript": "XM_005250574.4",
"protein_id": "XP_005250631.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3073,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250574.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3073C>G",
"hgvs_p": "p.Gln1025Glu",
"transcript": "XM_047420822.1",
"protein_id": "XP_047276778.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3073,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420822.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
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"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3049C>G",
"hgvs_p": "p.Gln1017Glu",
"transcript": "XM_006716120.4",
"protein_id": "XP_006716183.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1071,
"cds_start": 3049,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716120.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.1576C>G",
"hgvs_p": "p.Gln526Glu",
"transcript": "XM_006716121.3",
"protein_id": "XP_006716184.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 580,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716121.3"
}
],
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"dbsnp": "rs748929082",
"frequency_reference_population": 0.00003661685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000397451,
"gnomad_genomes_af": 0.00000657981,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10415098071098328,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0725,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.547,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001366867.1",
"gene_symbol": "CACNA2D1",
"hgnc_id": 1399,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.3145C>G",
"hgvs_p": "p.Gln1049Glu"
}
],
"clinvar_disease": "Brugada syndrome,Cardiovascular phenotype",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Brugada syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}