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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: 1-113896264-AGTAATACAACAAAC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113896264&ref=AGTAATACAACAAAC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113896264,
"ref": "AGTAATACAACAAAC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000369569.6",
"consequences": [
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1490_1503delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg497fs",
"transcript": "NM_001253852.3",
"protein_id": "NP_001240781.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 739,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "ENST00000369569.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1490_1503delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg497fs",
"transcript": "ENST00000369569.6",
"protein_id": "ENSP00000358582.1",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 739,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "NM_001253852.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1490_1503delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg497fs",
"transcript": "ENST00000256658.8",
"protein_id": "ENSP00000256658.4",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 739,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1490_1503delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg497fs",
"transcript": "NM_001438373.1",
"protein_id": "NP_001425302.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 739,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1490_1503delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg497fs",
"transcript": "NM_006594.5",
"protein_id": "NP_006585.2",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 739,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1490_1503delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg497fs",
"transcript": "ENST00000369571.3",
"protein_id": "ENSP00000358584.3",
"transcript_support_level": 3,
"aa_start": 497,
"aa_end": null,
"aa_length": 739,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1490_1503delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg497fs",
"transcript": "ENST00000713590.1",
"protein_id": "ENSP00000518886.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 739,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1490_1503delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg497fs",
"transcript": "ENST00000713645.1",
"protein_id": "ENSP00000518947.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 739,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1265_1278delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg422fs",
"transcript": "NM_001437822.1",
"protein_id": "NP_001424751.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 664,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1265_1278delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg422fs",
"transcript": "ENST00000369564.6",
"protein_id": "ENSP00000358577.2",
"transcript_support_level": 5,
"aa_start": 422,
"aa_end": null,
"aa_length": 664,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1211_1224delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg404fs",
"transcript": "NM_001438374.1",
"protein_id": "NP_001425303.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 646,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1193_1206delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg398fs",
"transcript": "NM_001253853.3",
"protein_id": "NP_001240782.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 640,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.986_999delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg329fs",
"transcript": "NM_001308312.2",
"protein_id": "NP_001295241.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 571,
"cds_start": 986,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.986_999delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg329fs",
"transcript": "NM_001438376.1",
"protein_id": "NP_001425305.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 571,
"cds_start": 986,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.986_999delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg329fs",
"transcript": "ENST00000369567.6",
"protein_id": "ENSP00000358580.1",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 571,
"cds_start": 986,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.986_999delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg329fs",
"transcript": "ENST00000432415.6",
"protein_id": "ENSP00000393622.2",
"transcript_support_level": 3,
"aa_start": 329,
"aa_end": null,
"aa_length": 571,
"cds_start": 986,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.872_885delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg291fs",
"transcript": "XM_047439008.1",
"protein_id": "XP_047294964.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 533,
"cds_start": 872,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLLYY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.515_528delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg172fs",
"transcript": "XM_047439078.1",
"protein_id": "XP_047295034.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 414,
"cds_start": 515,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.*560_*573delGTTTGTTGTATTAC",
"hgvs_p": null,
"transcript": "ENST00000460653.2",
"protein_id": "ENSP00000518881.1",
"transcript_support_level": 3,
"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": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.1662_1675delGTTTGTTGTATTAC",
"hgvs_p": null,
"transcript": "ENST00000462591.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.718_731delGTTTGTTGTATTAC",
"hgvs_p": null,
"transcript": "ENST00000479285.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.324_337delGTTTGTTGTATTAC",
"hgvs_p": null,
"transcript": "ENST00000479801.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "AP4B1-AS1",
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"hgvs_c": "n.415-1601_415-1588delAATACAACAAACGT",
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"transcript": "NR_125965.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1303-240_1303-227delGTTTGTTGTATTAC",
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"transcript": "XM_047439052.1",
"protein_id": "XP_047295008.1",
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"aa_end": null,
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"cds_end": null,
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"cdna_length": 1553,
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"feature": null
}
],
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"dbsnp": "rs1553257236",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.29,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000369569.6",
"gene_symbol": "AP4B1",
"hgnc_id": 572,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1490_1503delGTTTGTTGTATTAC",
"hgvs_p": "p.Arg497fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000419536.1",
"gene_symbol": "AP4B1-AS1",
"hgnc_id": 44114,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.247-1601_247-1588delAATACAACAAACGT",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary spastic paraplegia 47",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Hereditary spastic paraplegia 47",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}