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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: 15-58538351-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=58538351&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 58538351,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000236.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "NM_000236.3",
"protein_id": "NP_000227.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299022.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000236.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000299022.10",
"protein_id": "ENSP00000299022.5",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000236.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299022.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000414170.7",
"protein_id": "ENSP00000395569.3",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414170.7"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "n.131-3434C>T",
"hgvs_p": null,
"transcript": "ENST00000559845.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000559845.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901642.1",
"protein_id": "ENSP00000571701.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 534,
"cds_start": 107,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901642.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901654.1",
"protein_id": "ENSP00000571713.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 534,
"cds_start": 107,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901654.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901655.1",
"protein_id": "ENSP00000571714.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 534,
"cds_start": 107,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901655.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000356113.10",
"protein_id": "ENSP00000348425.6",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356113.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901639.1",
"protein_id": "ENSP00000571698.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901639.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901645.1",
"protein_id": "ENSP00000571704.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901645.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901646.1",
"protein_id": "ENSP00000571705.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901646.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901648.1",
"protein_id": "ENSP00000571707.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901648.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901649.1",
"protein_id": "ENSP00000571708.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901649.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901652.1",
"protein_id": "ENSP00000571711.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 499,
"cds_start": 107,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901652.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901643.1",
"protein_id": "ENSP00000571702.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 491,
"cds_start": 107,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901643.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901647.1",
"protein_id": "ENSP00000571706.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 491,
"cds_start": 107,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901647.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901650.1",
"protein_id": "ENSP00000571709.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 491,
"cds_start": 107,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901650.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901657.1",
"protein_id": "ENSP00000571716.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 491,
"cds_start": 107,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901657.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901641.1",
"protein_id": "ENSP00000571700.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 479,
"cds_start": 107,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901641.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901644.1",
"protein_id": "ENSP00000571703.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 479,
"cds_start": 107,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901644.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901651.1",
"protein_id": "ENSP00000571710.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 479,
"cds_start": 107,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901651.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901653.1",
"protein_id": "ENSP00000571712.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 479,
"cds_start": 107,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901653.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
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"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901656.1",
"protein_id": "ENSP00000571715.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 479,
"cds_start": 107,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901656.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000433326.2",
"protein_id": "ENSP00000395002.2",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 438,
"cds_start": 107,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433326.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000901640.1",
"protein_id": "ENSP00000571699.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 438,
"cds_start": 107,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901640.1"
}
],
"gene_symbol": "LIPC",
"gene_hgnc_id": 6619,
"dbsnp": "rs1184798854",
"frequency_reference_population": 0.0000027362064,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273621,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13374871015548706,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
"alphamissense_score": 0.0761,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.688,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000236.3",
"gene_symbol": "LIPC",
"hgnc_id": 6619,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}