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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: 2-165115483-GTCT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=165115483&ref=GTCT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 165115483,
"ref": "GTCT",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000283254.12",
"consequences": [
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3483_3485delAGA",
"hgvs_p": "p.Glu1161del",
"transcript": "NM_006922.4",
"protein_id": "NP_008853.3",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 3960,
"cdna_end": null,
"cdna_length": 9102,
"mane_select": "ENST00000283254.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3483_3485delAGA",
"hgvs_p": "p.Glu1161del",
"transcript": "ENST00000283254.12",
"protein_id": "ENSP00000283254.7",
"transcript_support_level": 1,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 3960,
"cdna_end": null,
"cdna_length": 9102,
"mane_select": "NM_006922.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3336_3338delAGA",
"hgvs_p": "p.Glu1112del",
"transcript": "ENST00000409101.7",
"protein_id": "ENSP00000386726.3",
"transcript_support_level": 1,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1951,
"cds_start": 3336,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 3649,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3432_3434delAGA",
"hgvs_p": "p.Glu1144del",
"transcript": "ENST00000706067.1",
"protein_id": "ENSP00000516211.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1983,
"cds_start": 3432,
"cds_end": null,
"cds_length": 5952,
"cdna_start": 3743,
"cdna_end": null,
"cdna_length": 8869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3432_3434delAGA",
"hgvs_p": "p.Glu1144del",
"transcript": "ENST00000639244.1",
"protein_id": "ENSP00000492251.1",
"transcript_support_level": 5,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1979,
"cds_start": 3432,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 3740,
"cdna_end": null,
"cdna_length": 8854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3336_3338delAGA",
"hgvs_p": "p.Glu1112del",
"transcript": "NM_001081676.2",
"protein_id": "NP_001075145.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1951,
"cds_start": 3336,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 8955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3336_3338delAGA",
"hgvs_p": "p.Glu1112del",
"transcript": "NM_001081677.2",
"protein_id": "NP_001075146.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1951,
"cds_start": 3336,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 8955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3336_3338delAGA",
"hgvs_p": "p.Glu1112del",
"transcript": "ENST00000440431.6",
"protein_id": "ENSP00000403348.1",
"transcript_support_level": 5,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1363,
"cds_start": 3336,
"cds_end": null,
"cds_length": 4092,
"cdna_start": 3392,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3483_3485delAGA",
"hgvs_p": "p.Glu1161del",
"transcript": "XM_011511610.4",
"protein_id": "XP_011509912.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 4100,
"cdna_end": null,
"cdna_length": 9242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3483_3485delAGA",
"hgvs_p": "p.Glu1161del",
"transcript": "XM_017004660.3",
"protein_id": "XP_016860149.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3483,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 3960,
"cdna_end": null,
"cdna_length": 9102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3432_3434delAGA",
"hgvs_p": "p.Glu1144del",
"transcript": "XM_017004661.3",
"protein_id": "XP_016860150.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1983,
"cds_start": 3432,
"cds_end": null,
"cds_length": 5952,
"cdna_start": 3909,
"cdna_end": null,
"cdna_length": 9051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3432_3434delAGA",
"hgvs_p": "p.Glu1144del",
"transcript": "XM_047445394.1",
"protein_id": "XP_047301350.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1983,
"cds_start": 3432,
"cds_end": null,
"cds_length": 5952,
"cdna_start": 3909,
"cdna_end": null,
"cdna_length": 9051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3345_3347delAGA",
"hgvs_p": "p.Glu1115del",
"transcript": "XM_017004662.3",
"protein_id": "XP_016860151.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1954,
"cds_start": 3345,
"cds_end": null,
"cds_length": 5865,
"cdna_start": 3822,
"cdna_end": null,
"cdna_length": 8964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.1593_1595delAGA",
"hgvs_p": "p.Glu531del",
"transcript": "XM_011511613.4",
"protein_id": "XP_011509915.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 1370,
"cds_start": 1593,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 6822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.3336_3338delAGA",
"hgvs_p": "p.Glu1112del",
"transcript": "XM_047445395.1",
"protein_id": "XP_047301351.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3336,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 4387,
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*1324_*1326delAGA",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*217_*219delAGA",
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*195_*197delAGA",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"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": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*1324_*1326delAGA",
"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": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*217_*219delAGA",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "n.*195_*197delAGA",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.161-14556_161-14554delTTC",
"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
},
{
"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.399-14556_399-14554delTTC",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236283",
"gene_hgnc_id": null,
"hgvs_c": "n.373-14556_373-14554delTTC",
"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": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.*7408_*7410delAGA",
"hgvs_p": null,
"transcript": "XM_017004664.2",
"protein_id": "XP_016860153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1132,
"cds_start": -4,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.*7408_*7410delAGA",
"hgvs_p": null,
"transcript": "XM_017004665.2",
"protein_id": "XP_016860154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": -4,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"hgvs_c": "c.*7408_*7410delAGA",
"hgvs_p": null,
"transcript": "XM_017004666.2",
"protein_id": "XP_016860155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": -4,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN3A",
"gene_hgnc_id": 10590,
"dbsnp": "rs1553520243",
"frequency_reference_population": 0.0000013681781,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136818,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.679,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000283254.12",
"gene_symbol": "SCN3A",
"hgnc_id": 10590,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3483_3485delAGA",
"hgvs_p": "p.Glu1161del"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000625505.2",
"gene_symbol": "ENSG00000236283",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.161-14556_161-14554delTTC",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}