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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: 9-114407949-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114407949&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114407949,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000362057.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Val566Met",
"transcript": "NM_015404.4",
"protein_id": "NP_056219.3",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 907,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "ENST00000362057.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Val566Met",
"transcript": "ENST00000362057.4",
"protein_id": "ENSP00000354623.3",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 907,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "NM_015404.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Val183Met",
"transcript": "ENST00000265134.10",
"protein_id": "ENSP00000265134.6",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 524,
"cds_start": 547,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Val566Met",
"transcript": "NM_001173425.2",
"protein_id": "NP_001166896.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 906,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Val496Met",
"transcript": "ENST00000674036.9",
"protein_id": "ENSP00000501297.5",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 837,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "NM_001346890.1",
"protein_id": "NP_001333819.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 556,
"cds_start": 643,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Val183Met",
"transcript": "NM_001083885.3",
"protein_id": "NP_001077354.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 524,
"cds_start": 547,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1729G>A",
"hgvs_p": "p.Val577Met",
"transcript": "XM_011518485.2",
"protein_id": "XP_011516787.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 918,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1729G>A",
"hgvs_p": "p.Val577Met",
"transcript": "XM_011518486.3",
"protein_id": "XP_011516788.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 917,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Val566Met",
"transcript": "XM_047423161.1",
"protein_id": "XP_047279117.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 907,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Val566Met",
"transcript": "XM_047423163.1",
"protein_id": "XP_047279119.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 906,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Met",
"transcript": "XM_011518487.3",
"protein_id": "XP_011516789.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 876,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1570G>A",
"hgvs_p": "p.Val524Met",
"transcript": "XM_047423164.1",
"protein_id": "XP_047279120.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 865,
"cds_start": 1570,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2099,
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"cdna_length": 3801,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"splice_region_variant"
],
"exon_rank": 8,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1570G>A",
"hgvs_p": "p.Val524Met",
"transcript": "XM_047423165.1",
"protein_id": "XP_047279121.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 864,
"cds_start": 1570,
"cds_end": null,
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"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Val496Met",
"transcript": "XM_047423166.1",
"protein_id": "XP_047279122.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 837,
"cds_start": 1486,
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"cdna_start": 2015,
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"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Val496Met",
"transcript": "XM_047423167.1",
"protein_id": "XP_047279123.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 836,
"cds_start": 1486,
"cds_end": null,
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"cdna_start": 2158,
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"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Val454Met",
"transcript": "XM_047423168.1",
"protein_id": "XP_047279124.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 795,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Val454Met",
"transcript": "XM_047423169.1",
"protein_id": "XP_047279125.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 794,
"cds_start": 1360,
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"cdna_start": 2032,
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"cdna_length": 3731,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1925G>A",
"hgvs_p": "p.Arg642His",
"transcript": "XM_047423170.1",
"protein_id": "XP_047279126.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 643,
"cds_start": 1925,
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"cdna_start": 2597,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608His",
"transcript": "XM_047423171.1",
"protein_id": "XP_047279127.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 609,
"cds_start": 1823,
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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": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "n.2420G>A",
"hgvs_p": null,
"transcript": "ENST00000673811.1",
"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": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "n.1577G>A",
"hgvs_p": null,
"transcript": "ENST00000674048.1",
"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,
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"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "n.2596G>A",
"hgvs_p": null,
"transcript": "XR_929750.4",
"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": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "n.2470G>A",
"hgvs_p": null,
"transcript": "XR_929757.3",
"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": 2492,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.*81G>A",
"hgvs_p": null,
"transcript": "XM_011518492.3",
"protein_id": "XP_011516794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"dbsnp": "rs189654215",
"frequency_reference_population": 0.000006875825,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000483551,
"gnomad_genomes_af": 0.000026284,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15723749995231628,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.026000000536441803,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.1051,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.647,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000438580140704177,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000362057.4",
"gene_symbol": "WHRN",
"hgnc_id": 16361,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Val566Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}