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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: 8-144519798-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144519798&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144519798,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000292524.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "NM_014665.4",
"protein_id": "NP_055480.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": "ENST00000292524.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "ENST00000292524.6",
"protein_id": "ENSP00000292524.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": "NM_014665.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "ENST00000529022.5",
"protein_id": "ENSP00000434768.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "NM_001272036.2",
"protein_id": "NP_001258965.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "ENST00000527730.1",
"protein_id": "ENSP00000436452.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 300,
"cds_start": 73,
"cds_end": null,
"cds_length": 903,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "ENST00000525766.1",
"protein_id": "ENSP00000434738.1",
"transcript_support_level": 3,
"aa_start": 25,
"aa_end": null,
"aa_length": 158,
"cds_start": 73,
"cds_end": null,
"cds_length": 479,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "ENST00000530854.1",
"protein_id": "ENSP00000435985.1",
"transcript_support_level": 3,
"aa_start": 25,
"aa_end": null,
"aa_length": 85,
"cds_start": 73,
"cds_end": null,
"cds_length": 260,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "XM_005272358.6",
"protein_id": "XP_005272415.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 5251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "XM_005272359.6",
"protein_id": "XP_005272416.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met",
"transcript": "XM_024447336.2",
"protein_id": "XP_024303104.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 6111,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.532T>A",
"hgvs_p": null,
"transcript": "ENST00000531310.1",
"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": 1369,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.301T>A",
"hgvs_p": null,
"transcript": "XR_007060765.1",
"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": 5108,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.215T>A",
"hgvs_p": null,
"transcript": "XR_007060766.1",
"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": 5022,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.148T>A",
"hgvs_p": null,
"transcript": "XR_007060767.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.234T>A",
"hgvs_p": null,
"transcript": "XR_007060768.1",
"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": 5041,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.215T>A",
"hgvs_p": null,
"transcript": "XR_007060769.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.148T>A",
"hgvs_p": null,
"transcript": "XR_007060770.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.234T>A",
"hgvs_p": null,
"transcript": "XR_007060771.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.148T>A",
"hgvs_p": null,
"transcript": "XR_007060772.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.148T>A",
"hgvs_p": null,
"transcript": "XR_007060773.1",
"protein_id": null,
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"feature": null
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.234T>A",
"hgvs_p": null,
"transcript": "XR_007060774.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.148T>A",
"hgvs_p": null,
"transcript": "XR_007060775.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4686,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "n.215T>A",
"hgvs_p": null,
"transcript": "XR_007060776.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
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],
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},
{
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"intron_variant"
],
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "LRRC14",
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}
],
"gene_symbol": "LRRC14",
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"dbsnp": "rs2721172",
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"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": 0.1679726541042328,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.13,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.222,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 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": "ENST00000292524.6",
"gene_symbol": "LRRC14",
"hgnc_id": 20419,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Leu25Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}