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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: 22-38074947-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38074947&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38074947,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012407.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "NM_012407.4",
"protein_id": "NP_036539.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 415,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356976.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012407.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000356976.8",
"protein_id": "ENSP00000349465.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 415,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012407.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356976.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"transcript": "ENST00000951428.1",
"protein_id": "ENSP00000621487.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 450,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951428.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"transcript": "ENST00000951430.1",
"protein_id": "ENSP00000621489.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 450,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951430.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "NM_001039583.1",
"protein_id": "NP_001034672.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 415,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039583.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "NM_001039584.1",
"protein_id": "NP_001034673.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 415,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039584.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000404072.7",
"protein_id": "ENSP00000385205.3",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 415,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404072.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000883304.1",
"protein_id": "ENSP00000553363.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 415,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883304.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Ala353Thr",
"transcript": "ENST00000883307.1",
"protein_id": "ENSP00000553366.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 413,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883307.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Ala353Thr",
"transcript": "ENST00000951427.1",
"protein_id": "ENSP00000621486.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 413,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951427.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Ala338Thr",
"transcript": "ENST00000883305.1",
"protein_id": "ENSP00000553364.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 398,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883305.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Ala338Thr",
"transcript": "ENST00000951426.1",
"protein_id": "ENSP00000621485.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 398,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951426.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "ENST00000883303.1",
"protein_id": "ENSP00000553362.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 397,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883303.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "ENST00000883306.1",
"protein_id": "ENSP00000553365.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 397,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883306.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "ENST00000951425.1",
"protein_id": "ENSP00000621484.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 397,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951425.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "ENST00000883308.1",
"protein_id": "ENSP00000553367.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 394,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883308.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "ENST00000920341.1",
"protein_id": "ENSP00000590400.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 394,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920341.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Ala312Thr",
"transcript": "ENST00000951429.1",
"protein_id": "ENSP00000621488.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 372,
"cds_start": 934,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951429.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_011530517.4",
"protein_id": "XP_011528819.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 397,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530517.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_047441609.1",
"protein_id": "XP_047297565.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 397,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441609.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_047441610.1",
"protein_id": "XP_047297566.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 397,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441610.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Ala325Thr",
"transcript": "XM_047441612.1",
"protein_id": "XP_047297568.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 385,
"cds_start": 973,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441612.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Ala267Thr",
"transcript": "XM_047441611.1",
"protein_id": "XP_047297567.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 327,
"cds_start": 799,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441611.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Ala227Thr",
"transcript": "XM_047441613.1",
"protein_id": "XP_047297569.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 287,
"cds_start": 679,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"hgvs_c": "n.1785G>A",
"hgvs_p": null,
"transcript": "ENST00000484021.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000484021.5"
}
],
"gene_symbol": "PICK1",
"gene_hgnc_id": 9394,
"dbsnp": "rs2085800666",
"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": 0.424038827419281,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.234,
"revel_prediction": "Benign",
"alphamissense_score": 0.1819,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.973,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012407.4",
"gene_symbol": "PICK1",
"hgnc_id": 9394,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr"
}
],
"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
}