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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: 1-202558893-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202558893&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202558893,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000608999.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2507G>A",
"hgvs_p": "p.Arg836Lys",
"transcript": "NM_002481.4",
"protein_id": "NP_002472.2",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 982,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 15244,
"mane_select": "ENST00000608999.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2507G>A",
"hgvs_p": "p.Arg836Lys",
"transcript": "ENST00000608999.6",
"protein_id": "ENSP00000476755.1",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 982,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 15244,
"mane_select": "NM_002481.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62Lys",
"transcript": "ENST00000290419.9",
"protein_id": "ENSP00000484005.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 224,
"cds_start": 185,
"cds_end": null,
"cds_length": 675,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62Lys",
"transcript": "ENST00000491336.5",
"protein_id": "ENSP00000480852.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 208,
"cds_start": 185,
"cds_end": null,
"cds_length": 627,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40Lys",
"transcript": "ENST00000634903.1",
"protein_id": "ENSP00000488930.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 186,
"cds_start": 119,
"cds_end": null,
"cds_length": 561,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2690G>A",
"hgvs_p": "p.Arg897Lys",
"transcript": "NM_001331029.2",
"protein_id": "NP_001317958.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 15427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2690G>A",
"hgvs_p": "p.Arg897Lys",
"transcript": "ENST00000391959.5",
"protein_id": "ENSP00000375821.5",
"transcript_support_level": 5,
"aa_start": 897,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 15431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2507G>A",
"hgvs_p": "p.Arg836Lys",
"transcript": "NM_001410283.1",
"protein_id": "NP_001397212.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 998,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 15425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2507G>A",
"hgvs_p": "p.Arg836Lys",
"transcript": "ENST00000704899.1",
"protein_id": "ENSP00000516058.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 998,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2690G>A",
"hgvs_p": "p.Arg897Lys",
"transcript": "XM_017001342.2",
"protein_id": "XP_016856831.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2690G>A",
"hgvs_p": "p.Arg897Lys",
"transcript": "XM_017001343.2",
"protein_id": "XP_016856832.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2690G>A",
"hgvs_p": "p.Arg897Lys",
"transcript": "XM_017001345.2",
"protein_id": "XP_016856834.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 15424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.2186G>A",
"hgvs_p": "p.Arg729Lys",
"transcript": "XM_047421210.1",
"protein_id": "XP_047277166.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 891,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2876,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62Lys",
"transcript": "NM_032104.3",
"protein_id": "NP_115287.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 224,
"cds_start": 185,
"cds_end": null,
"cds_length": 675,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 13806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62Lys",
"transcript": "NM_032103.3",
"protein_id": "NP_115286.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 208,
"cds_start": 185,
"cds_end": null,
"cds_length": 627,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 13625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40Lys",
"transcript": "NM_001197131.1",
"protein_id": "NP_001184060.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 186,
"cds_start": 119,
"cds_end": null,
"cds_length": 561,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 8596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62Lys",
"transcript": "XM_017001352.2",
"protein_id": "XP_016856841.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 224,
"cds_start": 185,
"cds_end": null,
"cds_length": 675,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40Lys",
"transcript": "XM_017001355.3",
"protein_id": "XP_016856844.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 186,
"cds_start": 119,
"cds_end": null,
"cds_length": 561,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 13236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.276G>A",
"hgvs_p": null,
"transcript": "ENST00000367269.2",
"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": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.*143G>A",
"hgvs_p": null,
"transcript": "ENST00000466273.6",
"protein_id": "ENSP00000489098.1",
"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": 350,
"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": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.2990G>A",
"hgvs_p": null,
"transcript": "XR_001737195.2",
"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": 3116,
"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": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.2987G>A",
"hgvs_p": null,
"transcript": "XR_007060689.1",
"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": 3113,
"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"
],
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{
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{
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{
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}
],
"gene_symbol": "PPP1R12B",
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"dbsnp": "rs3881953",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 7.00249e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.17227867245674133,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.9679999947547913,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.059,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.816,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.77,
"spliceai_max_prediction": "Pathogenic",
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"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000608999.6",
"gene_symbol": "PPP1R12B",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2507G>A",
"hgvs_p": "p.Arg836Lys"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}