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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: 2-165090921-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=165090921&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 165090921,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000283254.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5232A>G",
"hgvs_p": "p.Pro1744Pro",
"transcript": "NM_006922.4",
"protein_id": "NP_008853.3",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5232,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 5707,
"cdna_end": null,
"cdna_length": 9102,
"mane_select": "ENST00000283254.12",
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5232A>G",
"hgvs_p": "p.Pro1744Pro",
"transcript": "ENST00000283254.12",
"protein_id": "ENSP00000283254.7",
"transcript_support_level": 1,
"aa_start": 1744,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5232,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 5707,
"cdna_end": null,
"cdna_length": 9102,
"mane_select": "NM_006922.4",
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Pro1695Pro",
"transcript": "ENST00000409101.7",
"protein_id": "ENSP00000386726.3",
"transcript_support_level": 1,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1951,
"cds_start": 5085,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 5396,
"cdna_end": null,
"cdna_length": 6599,
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5181A>G",
"hgvs_p": "p.Pro1727Pro",
"transcript": "ENST00000706067.1",
"protein_id": "ENSP00000516211.1",
"transcript_support_level": null,
"aa_start": 1727,
"aa_end": null,
"aa_length": 1983,
"cds_start": 5181,
"cds_end": null,
"cds_length": 5952,
"cdna_start": 5490,
"cdna_end": null,
"cdna_length": 8869,
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5169A>G",
"hgvs_p": "p.Pro1723Pro",
"transcript": "ENST00000639244.1",
"protein_id": "ENSP00000492251.1",
"transcript_support_level": 5,
"aa_start": 1723,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5169,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 5475,
"cdna_end": null,
"cdna_length": 8854,
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Pro1695Pro",
"transcript": "NM_001081676.2",
"protein_id": "NP_001075145.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1951,
"cds_start": 5085,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 5560,
"cdna_end": null,
"cdna_length": 8955,
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Pro1695Pro",
"transcript": "NM_001081677.2",
"protein_id": "NP_001075146.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1951,
"cds_start": 5085,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 5560,
"cdna_end": null,
"cdna_length": 8955,
"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": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5232A>G",
"hgvs_p": "p.Pro1744Pro",
"transcript": "XM_011511610.4",
"protein_id": "XP_011509912.1",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5232,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 5847,
"cdna_end": null,
"cdna_length": 9242,
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5232A>G",
"hgvs_p": "p.Pro1744Pro",
"transcript": "XM_017004660.3",
"protein_id": "XP_016860149.1",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5232,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 5707,
"cdna_end": null,
"cdna_length": 9102,
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5181A>G",
"hgvs_p": "p.Pro1727Pro",
"transcript": "XM_017004661.3",
"protein_id": "XP_016860150.1",
"transcript_support_level": null,
"aa_start": 1727,
"aa_end": null,
"aa_length": 1983,
"cds_start": 5181,
"cds_end": null,
"cds_length": 5952,
"cdna_start": 5656,
"cdna_end": null,
"cdna_length": 9051,
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5181A>G",
"hgvs_p": "p.Pro1727Pro",
"transcript": "XM_047445394.1",
"protein_id": "XP_047301350.1",
"transcript_support_level": null,
"aa_start": 1727,
"aa_end": null,
"aa_length": 1983,
"cds_start": 5181,
"cds_end": null,
"cds_length": 5952,
"cdna_start": 5656,
"cdna_end": null,
"cdna_length": 9051,
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.5094A>G",
"hgvs_p": "p.Pro1698Pro",
"transcript": "XM_017004662.3",
"protein_id": "XP_016860151.1",
"transcript_support_level": null,
"aa_start": 1698,
"aa_end": null,
"aa_length": 1954,
"cds_start": 5094,
"cds_end": null,
"cds_length": 5865,
"cdna_start": 5569,
"cdna_end": null,
"cdna_length": 8964,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3342A>G",
"hgvs_p": "p.Pro1114Pro",
"transcript": "XM_011511613.4",
"protein_id": "XP_011509915.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3342,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 3427,
"cdna_end": null,
"cdna_length": 6822,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*3073A>G",
"hgvs_p": null,
"transcript": "ENST00000638473.1",
"protein_id": "ENSP00000491552.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 8724,
"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": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*1966A>G",
"hgvs_p": null,
"transcript": "ENST00000640652.1",
"protein_id": "ENSP00000492807.1",
"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": 8825,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*1944A>G",
"hgvs_p": null,
"transcript": "ENST00000658209.1",
"protein_id": "ENSP00000499598.1",
"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": 5540,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*3073A>G",
"hgvs_p": null,
"transcript": "ENST00000638473.1",
"protein_id": "ENSP00000491552.1",
"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": 8724,
"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": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*1966A>G",
"hgvs_p": null,
"transcript": "ENST00000640652.1",
"protein_id": "ENSP00000492807.1",
"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": 8825,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*1944A>G",
"hgvs_p": null,
"transcript": "ENST00000658209.1",
"protein_id": "ENSP00000499598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.462-199T>C",
"hgvs_p": null,
"transcript": "ENST00000431341.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 635,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.219-199T>C",
"hgvs_p": null,
"transcript": "ENST00000628085.2",
"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": 780,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.193-199T>C",
"hgvs_p": null,
"transcript": "ENST00000629817.2",
"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": 980,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.1144-199T>C",
"hgvs_p": null,
"transcript": "ENST00000638199.1",
"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": 3611,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.1113-199T>C",
"hgvs_p": null,
"transcript": "ENST00000662281.1",
"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": 2853,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.-219T>C",
"hgvs_p": null,
"transcript": "ENST00000625505.2",
"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": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"dbsnp": "rs144587694",
"frequency_reference_population": 0.00014373459,
"hom_count_reference_population": 0,
"allele_count_reference_population": 232,
"gnomad_exomes_af": 0.000122447,
"gnomad_genomes_af": 0.000348167,
"gnomad_exomes_ac": 179,
"gnomad_genomes_ac": 53,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.403,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000283254.12",
"gene_symbol": "SCN3A",
"hgnc_id": 10590,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5232A>G",
"hgvs_p": "p.Pro1744Pro"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000431341.1",
"gene_symbol": "ENSG00000236283",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.462-199T>C",
"hgvs_p": null
}
],
"clinvar_disease": " 62, familial focal, with variable foci 4,Developmental and epileptic encephalopathy,Epilepsy,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy, 62;Epilepsy, familial focal, with variable foci 4",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}