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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: 14-73962974-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73962974&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73962974,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000334571.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1383delG",
"hgvs_p": "p.Ile462fs",
"transcript": "NM_182476.3",
"protein_id": "NP_872282.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 468,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": "ENST00000334571.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1383delG",
"hgvs_p": "p.Ile462fs",
"transcript": "ENST00000334571.7",
"protein_id": "ENSP00000333946.2",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 468,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": "NM_182476.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "n.*983-1delG",
"hgvs_p": null,
"transcript": "ENST00000554341.6",
"protein_id": "ENSP00000450736.2",
"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": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1216delG",
"hgvs_p": "p.Asp406fs",
"transcript": "NM_001425255.1",
"protein_id": "NP_001412184.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 443,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 1384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1308delG",
"hgvs_p": "p.Ile437fs",
"transcript": "NM_182480.3",
"protein_id": "NP_872286.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 443,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1308delG",
"hgvs_p": "p.Ile437fs",
"transcript": "ENST00000394026.8",
"protein_id": "ENSP00000377594.4",
"transcript_support_level": 2,
"aa_start": 436,
"aa_end": null,
"aa_length": 443,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1275delG",
"hgvs_p": "p.Ile426fs",
"transcript": "NM_001425256.1",
"protein_id": "NP_001412185.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 432,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1218delG",
"hgvs_p": "p.Ile407fs",
"transcript": "NM_001425257.1",
"protein_id": "NP_001412186.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 413,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1200delG",
"hgvs_p": "p.Ile401fs",
"transcript": "NM_001425258.1",
"protein_id": "NP_001412187.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1158delG",
"hgvs_p": "p.Ile387fs",
"transcript": "NM_001425259.1",
"protein_id": "NP_001412188.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 393,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1158delG",
"hgvs_p": "p.Ile387fs",
"transcript": "NM_001425260.1",
"protein_id": "NP_001412189.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 393,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1158delG",
"hgvs_p": "p.Ile387fs",
"transcript": "ENST00000629426.2",
"protein_id": "ENSP00000486650.1",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 393,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1128delG",
"hgvs_p": "p.Ile377fs",
"transcript": "NM_001425262.1",
"protein_id": "NP_001412191.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 383,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1056delG",
"hgvs_p": "p.Ile353fs",
"transcript": "NM_001425263.1",
"protein_id": "NP_001412192.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 359,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.843delG",
"hgvs_p": "p.Ile282fs",
"transcript": "NM_001425264.1",
"protein_id": "NP_001412193.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 288,
"cds_start": 843,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.843delG",
"hgvs_p": "p.Ile282fs",
"transcript": "NM_001425265.1",
"protein_id": "NP_001412194.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 288,
"cds_start": 843,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.487delG",
"hgvs_p": "p.Asp163fs",
"transcript": "ENST00000554920.5",
"protein_id": "ENSP00000451562.1",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 200,
"cds_start": 487,
"cds_end": null,
"cds_length": 603,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 649,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "n.2983delG",
"hgvs_p": null,
"transcript": "ENST00000556588.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3119,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "n.349delG",
"hgvs_p": null,
"transcript": "ENST00000557780.5",
"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": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1200+7035delC",
"hgvs_p": null,
"transcript": "NM_001382258.1",
"protein_id": "NP_001369187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1201-3422delC",
"hgvs_p": null,
"transcript": "NM_001330189.2",
"protein_id": "NP_001317118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1201-3422delC",
"hgvs_p": null,
"transcript": "NM_001382259.1",
"protein_id": "NP_001369188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1201-3422delC",
"hgvs_p": null,
"transcript": "NM_001382260.1",
"protein_id": "NP_001369189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
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"cds_length": 1224,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 16,
"intron_rank": 15,
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"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
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"transcript": "ENST00000557325.5",
"protein_id": "ENSP00000451810.1",
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},
{
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"consequences": [
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],
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"intron_rank": 16,
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"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1201-1425delC",
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"transcript": "NM_001321984.2",
"protein_id": "NP_001308913.1",
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
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"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1200+7035delC",
"hgvs_p": null,
"transcript": "NM_001382262.1",
"protein_id": "NP_001369191.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cds_length": 1209,
"cdna_start": null,
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"cdna_length": 1976,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1153-1delG",
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"transcript": "NM_001425261.1",
"protein_id": "NP_001412190.1",
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"feature": null
},
{
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"intron_variant"
],
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"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.223-1425delC",
"hgvs_p": null,
"transcript": "ENST00000555829.5",
"protein_id": "ENSP00000451499.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"dbsnp": "rs1057519352",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 4.057,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000334571.7",
"gene_symbol": "COQ6",
"hgnc_id": 20233,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1383delG",
"hgvs_p": "p.Ile462fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001382258.1",
"gene_symbol": "ENTPD5",
"hgnc_id": 3367,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1200+7035delC",
"hgvs_p": null
}
],
"clinvar_disease": "Familial steroid-resistant nephrotic syndrome with sensorineural deafness,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "Familial steroid-resistant nephrotic syndrome with sensorineural deafness|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}