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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: 19-10459656-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10459656&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10459656,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001111307.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Thr421Met",
"transcript": "NM_001111307.2",
"protein_id": "NP_001104777.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 886,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380702.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111307.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Thr421Met",
"transcript": "ENST00000380702.7",
"protein_id": "ENSP00000370078.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 886,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001111307.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380702.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Thr399Met",
"transcript": "ENST00000592685.5",
"protein_id": "ENSP00000468507.1",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 864,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592685.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "ENST00000293683.9",
"protein_id": "ENSP00000293683.4",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 860,
"cds_start": 1184,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293683.9"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1079C>T",
"hgvs_p": "p.Thr360Met",
"transcript": "ENST00000440014.6",
"protein_id": "ENSP00000394754.1",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 825,
"cds_start": 1079,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440014.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000344979.7",
"protein_id": "ENSP00000341007.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 647,
"cds_start": 545,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344979.7"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "n.592C>T",
"hgvs_p": null,
"transcript": "ENST00000590407.1",
"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": "ENST00000590407.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Thr410Met",
"transcript": "ENST00000937031.1",
"protein_id": "ENSP00000607090.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 875,
"cds_start": 1229,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937031.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Thr399Met",
"transcript": "NM_001243121.2",
"protein_id": "NP_001230050.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 864,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243121.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "NM_001111308.1",
"protein_id": "NP_001104778.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 860,
"cds_start": 1184,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111308.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Thr377Met",
"transcript": "ENST00000937030.1",
"protein_id": "ENSP00000607089.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 842,
"cds_start": 1130,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937030.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1079C>T",
"hgvs_p": "p.Thr360Met",
"transcript": "NM_001111309.1",
"protein_id": "NP_001104779.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 825,
"cds_start": 1079,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111309.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Thr357Met",
"transcript": "ENST00000875632.1",
"protein_id": "ENSP00000545691.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 822,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875632.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "NM_006202.3",
"protein_id": "NP_006193.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 647,
"cds_start": 545,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006202.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Thr420Met",
"transcript": "XM_017026865.3",
"protein_id": "XP_016882354.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 885,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026865.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Thr398Met",
"transcript": "XM_047438910.1",
"protein_id": "XP_047294866.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 863,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438910.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Thr394Met",
"transcript": "XM_047438911.1",
"protein_id": "XP_047294867.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 859,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438911.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Thr359Met",
"transcript": "XM_047438912.1",
"protein_id": "XP_047294868.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 824,
"cds_start": 1076,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438912.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Thr421Met",
"transcript": "XM_011528055.4",
"protein_id": "XP_011526357.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 657,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528055.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "XM_047438913.1",
"protein_id": "XP_047294869.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 631,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438913.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1079C>T",
"hgvs_p": "p.Thr360Met",
"transcript": "XM_047438914.1",
"protein_id": "XP_047294870.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 596,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438914.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "XM_047438915.1",
"protein_id": "XP_047294871.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 582,
"cds_start": 350,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.528+158C>T",
"hgvs_p": null,
"transcript": "ENST00000591971.5",
"protein_id": "ENSP00000467137.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591971.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "n.621C>T",
"hgvs_p": null,
"transcript": "ENST00000586275.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000586275.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "n.161-1348C>T",
"hgvs_p": null,
"transcript": "ENST00000589073.1",
"protein_id": "ENSP00000465792.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000589073.1"
}
],
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"dbsnp": "rs200635711",
"frequency_reference_population": 0.00012266914,
"hom_count_reference_population": 0,
"allele_count_reference_population": 198,
"gnomad_exomes_af": 0.000131338,
"gnomad_genomes_af": 0.0000394177,
"gnomad_exomes_ac": 192,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.86050945520401,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.483,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1422,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.81,
"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": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001111307.2",
"gene_symbol": "PDE4A",
"hgnc_id": 8780,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Thr421Met"
}
],
"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
}