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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: 17-39177399-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39177399&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39177399,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000723.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1283T>C",
"hgvs_p": "p.Met428Thr",
"transcript": "NM_000723.5",
"protein_id": "NP_000714.3",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 598,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394303.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000723.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1283T>C",
"hgvs_p": "p.Met428Thr",
"transcript": "ENST00000394303.8",
"protein_id": "ENSP00000377840.3",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 598,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000723.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394303.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Met473Thr",
"transcript": "ENST00000344140.6",
"protein_id": "ENSP00000345461.5",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 523,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344140.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1283T>C",
"hgvs_p": "p.Met428Thr",
"transcript": "ENST00000394310.7",
"protein_id": "ENSP00000377847.3",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 478,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394310.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "n.3402T>C",
"hgvs_p": null,
"transcript": "ENST00000539338.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000539338.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Met473Thr",
"transcript": "ENST00000910733.1",
"protein_id": "ENSP00000580792.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 643,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910733.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Met473Thr",
"transcript": "ENST00000963643.1",
"protein_id": "ENSP00000633702.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 634,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963643.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Met451Thr",
"transcript": "ENST00000910732.1",
"protein_id": "ENSP00000580791.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 621,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910732.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1337T>C",
"hgvs_p": "p.Met446Thr",
"transcript": "ENST00000963642.1",
"protein_id": "ENSP00000633701.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 616,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963642.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1322T>C",
"hgvs_p": "p.Met441Thr",
"transcript": "ENST00000920599.1",
"protein_id": "ENSP00000590658.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 611,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920599.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1202T>C",
"hgvs_p": "p.Met401Thr",
"transcript": "ENST00000910734.1",
"protein_id": "ENSP00000580793.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 571,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910734.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1187T>C",
"hgvs_p": "p.Met396Thr",
"transcript": "ENST00000963641.1",
"protein_id": "ENSP00000633700.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 566,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963641.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Met473Thr",
"transcript": "NM_199247.3",
"protein_id": "NP_954855.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 523,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199247.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1283T>C",
"hgvs_p": "p.Met428Thr",
"transcript": "NM_199248.3",
"protein_id": "NP_954856.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 478,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199248.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Met473Thr",
"transcript": "XM_005257645.3",
"protein_id": "XP_005257702.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 643,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257645.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1286T>C",
"hgvs_p": "p.Met429Thr",
"transcript": "XM_017025024.2",
"protein_id": "XP_016880513.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 599,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025024.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1277T>C",
"hgvs_p": "p.Met426Thr",
"transcript": "XM_006722072.3",
"protein_id": "XP_006722135.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 596,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722072.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1142T>C",
"hgvs_p": "p.Met381Thr",
"transcript": "XM_017025025.2",
"protein_id": "XP_016880514.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 551,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025025.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Met200Thr",
"transcript": "XM_047436675.1",
"protein_id": "XP_047292631.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 370,
"cds_start": 599,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436675.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266101",
"gene_hgnc_id": 58562,
"hgvs_c": "n.469A>G",
"hgvs_p": null,
"transcript": "ENST00000579256.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000579256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266101",
"gene_hgnc_id": 58562,
"hgvs_c": "n.227+64A>G",
"hgvs_p": null,
"transcript": "ENST00000831062.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000831062.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266101",
"gene_hgnc_id": 58562,
"hgvs_c": "n.272+64A>G",
"hgvs_p": null,
"transcript": "ENST00000831065.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000831065.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNB1-AS1",
"gene_hgnc_id": 58562,
"hgvs_c": "n.318+64A>G",
"hgvs_p": null,
"transcript": "XR_001753099.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001753099.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNB1-AS1",
"gene_hgnc_id": 58562,
"hgvs_c": "n.515+64A>G",
"hgvs_p": null,
"transcript": "XR_934743.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_934743.3"
},
{
"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": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "n.*18T>C",
"hgvs_p": null,
"transcript": "ENST00000582544.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000582544.1"
}
],
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"dbsnp": "rs761633356",
"frequency_reference_population": 0.000040285795,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000253185,
"gnomad_genomes_af": 0.000184099,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12961545586585999,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.437,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7694,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.286,
"phylop100way_prediction": "Uncertain_significance",
"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": -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_000723.5",
"gene_symbol": "CACNB1",
"hgnc_id": 1401,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1283T>C",
"hgvs_p": "p.Met428Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000579256.1",
"gene_symbol": "ENSG00000266101",
"hgnc_id": 58562,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.469A>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_934743.3",
"gene_symbol": "CACNB1-AS1",
"hgnc_id": 58562,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.515+64A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}