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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: 6-169223466-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169223466&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169223466,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003247.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln",
"transcript": "NM_003247.5",
"protein_id": "NP_003238.2",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000617924.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003247.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln",
"transcript": "ENST00000617924.6",
"protein_id": "ENSP00000482784.1",
"transcript_support_level": 1,
"aa_start": 928,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003247.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617924.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln",
"transcript": "ENST00000366787.7",
"protein_id": "ENSP00000355751.3",
"transcript_support_level": 1,
"aa_start": 928,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366787.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933Gln",
"transcript": "ENST00000649844.1",
"protein_id": "ENSP00000497834.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649844.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln",
"transcript": "ENST00000676498.1",
"protein_id": "ENSP00000504820.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676498.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln",
"transcript": "ENST00000676760.1",
"protein_id": "ENSP00000503020.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676760.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln",
"transcript": "ENST00000906005.1",
"protein_id": "ENSP00000576064.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906005.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln",
"transcript": "ENST00000969636.1",
"protein_id": "ENSP00000639695.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969636.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln",
"transcript": "ENST00000969639.1",
"protein_id": "ENSP00000639698.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969639.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2750G>A",
"hgvs_p": "p.Arg917Gln",
"transcript": "ENST00000969637.1",
"protein_id": "ENSP00000639696.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969637.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2642G>A",
"hgvs_p": "p.Arg881Gln",
"transcript": "ENST00000927078.1",
"protein_id": "ENSP00000597137.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2642,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927078.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2642G>A",
"hgvs_p": "p.Arg881Gln",
"transcript": "ENST00000927079.1",
"protein_id": "ENSP00000597138.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2642,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927079.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln",
"transcript": "ENST00000927080.1",
"protein_id": "ENSP00000597139.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927080.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2612G>A",
"hgvs_p": "p.Arg871Gln",
"transcript": "ENST00000676869.1",
"protein_id": "ENSP00000504488.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676869.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2612G>A",
"hgvs_p": "p.Arg871Gln",
"transcript": "ENST00000969635.1",
"protein_id": "ENSP00000639694.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969635.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2609G>A",
"hgvs_p": "p.Arg870Gln",
"transcript": "NM_001381939.1",
"protein_id": "NP_001368868.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2609,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381939.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2609G>A",
"hgvs_p": "p.Arg870Gln",
"transcript": "ENST00000676628.1",
"protein_id": "ENSP00000504416.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2609,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676628.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2609G>A",
"hgvs_p": "p.Arg870Gln",
"transcript": "ENST00000906004.1",
"protein_id": "ENSP00000576063.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2609,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906004.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2552G>A",
"hgvs_p": "p.Arg851Gln",
"transcript": "NM_001381942.1",
"protein_id": "NP_001368871.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2552,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381942.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"transcript": "ENST00000969638.1",
"protein_id": "ENSP00000639697.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 383,
"cds_start": 416,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2774-45G>A",
"hgvs_p": null,
"transcript": "ENST00000927081.1",
"protein_id": "ENSP00000597140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"cds_start": null,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927081.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "n.1892G>A",
"hgvs_p": null,
"transcript": "ENST00000676941.1",
"protein_id": "ENSP00000503028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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},
{
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"biotype": "pseudogene",
"feature": "ENST00000678378.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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"feature": "NR_167744.1"
},
{
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},
{
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"consequences": [
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "THBS2-AS1",
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{
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],
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"feature": "ENST00000660724.1"
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{
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"strand": true,
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],
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{
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],
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{
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"consequences": [
"upstream_gene_variant"
],
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"biotype": "pseudogene",
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],
"gene_symbol": "THBS2",
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"dbsnp": "rs566007634",
"frequency_reference_population": 0.00003284044,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000301035,
"gnomad_genomes_af": 0.0000591172,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33615368604660034,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.629,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2542,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.366,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003247.5",
"gene_symbol": "THBS2",
"hgnc_id": 11786,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928Gln"
},
{
"score": -1,
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"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000444188.3",
"gene_symbol": "THBS2-AS1",
"hgnc_id": 56059,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.739+8979C>T",
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}
],
"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
}