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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: 2-152098958-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=152098958&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 152098958,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000539935.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "NM_000726.5",
"protein_id": "NP_000717.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 520,
"cds_start": 54,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": "ENST00000539935.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "ENST00000539935.7",
"protein_id": "ENSP00000438949.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 520,
"cds_start": 54,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": "NM_000726.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "ENST00000201943.10",
"protein_id": "ENSP00000201943.5",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 458,
"cds_start": 54,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "ENST00000427385.6",
"protein_id": "ENSP00000410978.2",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 479,
"cds_start": 54,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 76,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "NM_001145798.2",
"protein_id": "NP_001139270.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 458,
"cds_start": 54,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 7881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "ENST00000637309.1",
"protein_id": "ENSP00000490127.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 256,
"cds_start": 54,
"cds_end": null,
"cds_length": 771,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 7409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "XM_011511797.4",
"protein_id": "XP_011510099.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 457,
"cds_start": 54,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 7755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "XM_047445793.1",
"protein_id": "XP_047301749.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 262,
"cds_start": 54,
"cds_end": null,
"cds_length": 789,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "XM_047445794.1",
"protein_id": "XP_047301750.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 241,
"cds_start": 54,
"cds_end": null,
"cds_length": 726,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "XM_047445795.1",
"protein_id": "XP_047301751.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 236,
"cds_start": 54,
"cds_end": null,
"cds_length": 711,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "XM_047445796.1",
"protein_id": "XP_047301752.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 233,
"cds_start": 54,
"cds_end": null,
"cds_length": 702,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro",
"transcript": "XM_047445797.1",
"protein_id": "XP_047301753.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 229,
"cds_start": 54,
"cds_end": null,
"cds_length": 690,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 806,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "n.183C>A",
"hgvs_p": null,
"transcript": "ENST00000470066.2",
"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": 4036,
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "n.87C>A",
"hgvs_p": null,
"transcript": "XR_007081584.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225214",
"gene_hgnc_id": null,
"hgvs_c": "n.120+511G>T",
"hgvs_p": null,
"transcript": "ENST00000420365.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299271",
"gene_hgnc_id": null,
"hgvs_c": "n.165+215G>T",
"hgvs_p": null,
"transcript": "ENST00000762105.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225214",
"gene_hgnc_id": null,
"hgvs_c": "n.219+511G>T",
"hgvs_p": null,
"transcript": "ENST00000762324.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.-309C>A",
"hgvs_p": null,
"transcript": "NM_001005746.4",
"protein_id": "NP_001005746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.-309C>A",
"hgvs_p": null,
"transcript": "ENST00000638005.1",
"protein_id": "ENSP00000489677.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 502,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.-309C>A",
"hgvs_p": null,
"transcript": "ENST00000636442.1",
"protein_id": "ENSP00000489779.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.-309C>A",
"hgvs_p": null,
"transcript": "NM_001330113.2",
"protein_id": "NP_001317042.1",
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.-556C>A",
"hgvs_p": null,
"transcript": "ENST00000636496.1",
"protein_id": "ENSP00000490249.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 39,
"cds_start": -4,
"cds_end": null,
"cds_length": 121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "n.-309C>A",
"hgvs_p": null,
"transcript": "ENST00000636762.1",
"protein_id": "ENSP00000490918.1",
"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": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.-309C>A",
"hgvs_p": null,
"transcript": "XM_017004888.3",
"protein_id": "XP_016860377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"dbsnp": "rs373222155",
"frequency_reference_population": 0.000045320794,
"hom_count_reference_population": 0,
"allele_count_reference_population": 69,
"gnomad_exomes_af": 0.0000262702,
"gnomad_genomes_af": 0.000216954,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.492,
"phylop100way_prediction": "Benign",
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000539935.7",
"gene_symbol": "CACNB4",
"hgnc_id": 1404,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.54C>A",
"hgvs_p": "p.Pro18Pro"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000420365.1",
"gene_symbol": "ENSG00000225214",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.120+511G>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000762105.1",
"gene_symbol": "ENSG00000299271",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.165+215G>T",
"hgvs_p": null
}
],
"clinvar_disease": "CACNB4-related disorder,Idiopathic generalized epilepsy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|Idiopathic generalized epilepsy|not provided|CACNB4-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}