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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: 2-165354195-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=165354195&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 165354195,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000283256.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "NM_001040142.2",
"protein_id": "NP_001035232.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 8776,
"mane_select": "ENST00000375437.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "NM_001371246.1",
"protein_id": "NP_001358175.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 8776,
"mane_select": null,
"mane_plus": "ENST00000631182.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "ENST00000375437.7",
"protein_id": "ENSP00000364586.2",
"transcript_support_level": 5,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 8776,
"mane_select": "NM_001040142.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "ENST00000631182.3",
"protein_id": "ENSP00000486885.1",
"transcript_support_level": 5,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 8776,
"mane_select": null,
"mane_plus": "NM_001371246.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "ENST00000283256.10",
"protein_id": "ENSP00000283256.6",
"transcript_support_level": 1,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3079,
"cdna_end": null,
"cdna_length": 8660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.3066C>T",
"hgvs_p": null,
"transcript": "ENST00000480032.4",
"protein_id": null,
"transcript_support_level": 1,
"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": 11676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "NM_001040143.2",
"protein_id": "NP_001035233.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3320,
"cdna_end": null,
"cdna_length": 8895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "NM_001371247.1",
"protein_id": "NP_001358176.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 8604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "NM_021007.3",
"protein_id": "NP_066287.2",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3055,
"cdna_end": null,
"cdna_length": 8630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "ENST00000636071.2",
"protein_id": "ENSP00000490107.1",
"transcript_support_level": 5,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 8881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu",
"transcript": "ENST00000637266.2",
"protein_id": "ENSP00000490866.1",
"transcript_support_level": 5,
"aa_start": 975,
"aa_end": null,
"aa_length": 2005,
"cds_start": 2923,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 8610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "c.2527C>T",
"hgvs_p": "p.Leu843Leu",
"transcript": "ENST00000636985.2",
"protein_id": "ENSP00000490849.1",
"transcript_support_level": 5,
"aa_start": 843,
"aa_end": null,
"aa_length": 1873,
"cds_start": 2527,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 8856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*1242C>T",
"hgvs_p": null,
"transcript": "ENST00000636135.1",
"protein_id": "ENSP00000489821.1",
"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": 8519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*910C>T",
"hgvs_p": null,
"transcript": "ENST00000636384.2",
"protein_id": "ENSP00000490765.1",
"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": 9007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*3446C>T",
"hgvs_p": null,
"transcript": "ENST00000636662.2",
"protein_id": "ENSP00000489873.1",
"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": 9456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*865C>T",
"hgvs_p": null,
"transcript": "ENST00000636769.1",
"protein_id": "ENSP00000490800.1",
"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,
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"cdna_length": 8573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*276C>T",
"hgvs_p": null,
"transcript": "ENST00000673831.1",
"protein_id": "ENSP00000501305.1",
"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": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*65C>T",
"hgvs_p": null,
"transcript": "ENST00000673883.1",
"protein_id": "ENSP00000501309.1",
"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": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.772C>T",
"hgvs_p": null,
"transcript": "ENST00000674133.1",
"protein_id": "ENSP00000500975.1",
"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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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*1242C>T",
"hgvs_p": null,
"transcript": "ENST00000636135.1",
"protein_id": "ENSP00000489821.1",
"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,
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"cdna_length": 8519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*910C>T",
"hgvs_p": null,
"transcript": "ENST00000636384.2",
"protein_id": "ENSP00000490765.1",
"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": 9007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*3446C>T",
"hgvs_p": null,
"transcript": "ENST00000636662.2",
"protein_id": "ENSP00000489873.1",
"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": 9456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*865C>T",
"hgvs_p": null,
"transcript": "ENST00000636769.1",
"protein_id": "ENSP00000490800.1",
"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": 8573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*276C>T",
"hgvs_p": null,
"transcript": "ENST00000673831.1",
"protein_id": "ENSP00000501305.1",
"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": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"hgvs_c": "n.*65C>T",
"hgvs_p": null,
"transcript": "ENST00000673883.1",
"protein_id": "ENSP00000501309.1",
"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": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN2A",
"gene_hgnc_id": 10588,
"dbsnp": "rs375858093",
"frequency_reference_population": 0.00029003975,
"hom_count_reference_population": 0,
"allele_count_reference_population": 468,
"gnomad_exomes_af": 0.000295601,
"gnomad_genomes_af": 0.000236618,
"gnomad_exomes_ac": 432,
"gnomad_genomes_ac": 36,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"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": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.799,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000283256.10",
"gene_symbol": "SCN2A",
"hgnc_id": 10588,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2923C>T",
"hgvs_p": "p.Leu975Leu"
}
],
"clinvar_disease": " 11, 3, benign familial infantile,Developmental and epileptic encephalopathy,Seizures,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:2",
"phenotype_combined": "not specified|Seizures, benign familial infantile, 3;Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}