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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: 2-165090746-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=165090746&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 165090746,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006922.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5407G>A",
"hgvs_p": "p.Asp1803Asn",
"transcript": "NM_006922.4",
"protein_id": "NP_008853.3",
"transcript_support_level": null,
"aa_start": 1803,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5407,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283254.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006922.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5407G>A",
"hgvs_p": "p.Asp1803Asn",
"transcript": "ENST00000283254.12",
"protein_id": "ENSP00000283254.7",
"transcript_support_level": 1,
"aa_start": 1803,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5407,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006922.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283254.12"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5260G>A",
"hgvs_p": "p.Asp1754Asn",
"transcript": "ENST00000409101.7",
"protein_id": "ENSP00000386726.3",
"transcript_support_level": 1,
"aa_start": 1754,
"aa_end": null,
"aa_length": 1951,
"cds_start": 5260,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409101.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5356G>A",
"hgvs_p": "p.Asp1786Asn",
"transcript": "ENST00000706067.1",
"protein_id": "ENSP00000516211.1",
"transcript_support_level": null,
"aa_start": 1786,
"aa_end": null,
"aa_length": 1983,
"cds_start": 5356,
"cds_end": null,
"cds_length": 5952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706067.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5344G>A",
"hgvs_p": "p.Asp1782Asn",
"transcript": "ENST00000639244.1",
"protein_id": "ENSP00000492251.1",
"transcript_support_level": 5,
"aa_start": 1782,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5344,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639244.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5260G>A",
"hgvs_p": "p.Asp1754Asn",
"transcript": "NM_001081676.2",
"protein_id": "NP_001075145.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 1951,
"cds_start": 5260,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081676.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5260G>A",
"hgvs_p": "p.Asp1754Asn",
"transcript": "NM_001081677.2",
"protein_id": "NP_001075146.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 1951,
"cds_start": 5260,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081677.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5407G>A",
"hgvs_p": "p.Asp1803Asn",
"transcript": "XM_011511610.4",
"protein_id": "XP_011509912.1",
"transcript_support_level": null,
"aa_start": 1803,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5407,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511610.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5407G>A",
"hgvs_p": "p.Asp1803Asn",
"transcript": "XM_017004660.3",
"protein_id": "XP_016860149.1",
"transcript_support_level": null,
"aa_start": 1803,
"aa_end": null,
"aa_length": 2000,
"cds_start": 5407,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004660.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5356G>A",
"hgvs_p": "p.Asp1786Asn",
"transcript": "XM_017004661.3",
"protein_id": "XP_016860150.1",
"transcript_support_level": null,
"aa_start": 1786,
"aa_end": null,
"aa_length": 1983,
"cds_start": 5356,
"cds_end": null,
"cds_length": 5952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004661.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5356G>A",
"hgvs_p": "p.Asp1786Asn",
"transcript": "XM_047445394.1",
"protein_id": "XP_047301350.1",
"transcript_support_level": null,
"aa_start": 1786,
"aa_end": null,
"aa_length": 1983,
"cds_start": 5356,
"cds_end": null,
"cds_length": 5952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445394.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5269G>A",
"hgvs_p": "p.Asp1757Asn",
"transcript": "XM_017004662.3",
"protein_id": "XP_016860151.1",
"transcript_support_level": null,
"aa_start": 1757,
"aa_end": null,
"aa_length": 1954,
"cds_start": 5269,
"cds_end": null,
"cds_length": 5865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004662.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3517G>A",
"hgvs_p": "p.Asp1173Asn",
"transcript": "XM_011511613.4",
"protein_id": "XP_011509915.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3517,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511613.4"
},
{
"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.*3248G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638473.1"
},
{
"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.*2141G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640652.1"
},
{
"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.*2119G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000658209.1"
},
{
"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.*3248G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638473.1"
},
{
"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.*2141G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640652.1"
},
{
"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.*2119G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000658209.1"
},
{
"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": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.462-374C>T",
"hgvs_p": null,
"transcript": "ENST00000431341.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000431341.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.219-374C>T",
"hgvs_p": null,
"transcript": "ENST00000628085.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000628085.2"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.193-374C>T",
"hgvs_p": null,
"transcript": "ENST00000629817.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000629817.2"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.1144-374C>T",
"hgvs_p": null,
"transcript": "ENST00000638199.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000638199.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.1113-374C>T",
"hgvs_p": null,
"transcript": "ENST00000662281.1",
"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": "ENST00000662281.1"
}
],
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"dbsnp": "rs3731762",
"frequency_reference_population": 0.00055017223,
"hom_count_reference_population": 8,
"allele_count_reference_population": 888,
"gnomad_exomes_af": 0.000543833,
"gnomad_genomes_af": 0.000611062,
"gnomad_exomes_ac": 795,
"gnomad_genomes_ac": 93,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00893700122833252,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.732,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4,BA1",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_006922.4",
"gene_symbol": "SCN3A",
"hgnc_id": 10590,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5407G>A",
"hgvs_p": "p.Asp1803Asn"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000431341.1",
"gene_symbol": "ENSG00000236283",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.462-374C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,SCN3A-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|SCN3A-related disorder|Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}