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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: 19-19624404-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19624404&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 19624404,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001395660.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "NM_001395660.1",
"protein_id": "NP_001382589.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407877.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395660.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000407877.8",
"protein_id": "ENSP00000384665.3",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395660.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407877.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000542587.5",
"protein_id": "ENSP00000443256.2",
"transcript_support_level": 2,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542587.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000586703.1",
"protein_id": "ENSP00000465280.2",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586703.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000862318.1",
"protein_id": "ENSP00000532377.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862318.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000862319.1",
"protein_id": "ENSP00000532378.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862319.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000862320.1",
"protein_id": "ENSP00000532379.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862320.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000862321.1",
"protein_id": "ENSP00000532380.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862321.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000862322.1",
"protein_id": "ENSP00000532381.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862322.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000862323.1",
"protein_id": "ENSP00000532382.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862323.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000862324.1",
"protein_id": "ENSP00000532383.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862324.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000862325.1",
"protein_id": "ENSP00000532384.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862325.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914000.1",
"protein_id": "ENSP00000584059.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914000.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914001.1",
"protein_id": "ENSP00000584060.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914001.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914002.1",
"protein_id": "ENSP00000584061.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914002.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914003.1",
"protein_id": "ENSP00000584062.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914003.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914004.1",
"protein_id": "ENSP00000584063.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914004.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914005.1",
"protein_id": "ENSP00000584064.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914005.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914006.1",
"protein_id": "ENSP00000584065.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914006.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914007.1",
"protein_id": "ENSP00000584066.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914007.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914008.1",
"protein_id": "ENSP00000584067.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914008.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000914009.1",
"protein_id": "ENSP00000584068.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957105.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000957106.1",
"protein_id": "ENSP00000627165.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957106.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000957107.1",
"protein_id": "ENSP00000627166.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957107.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000957108.1",
"protein_id": "ENSP00000627167.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 348,
"cds_start": 899,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957108.1"
}
],
"gene_symbol": "LPAR2",
"gene_hgnc_id": 3168,
"dbsnp": "rs183366560",
"frequency_reference_population": 0.000034073913,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.00002189,
"gnomad_genomes_af": 0.000151032,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4946451187133789,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3389,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.812,
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001395660.1",
"gene_symbol": "LPAR2",
"hgnc_id": 3168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}