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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: 18-36797020-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36797020&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 36797020,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000334295.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Tyr230His",
"transcript": "NM_015476.4",
"protein_id": "NP_056291.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 300,
"cds_start": 688,
"cds_end": null,
"cds_length": 903,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": "ENST00000334295.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Tyr230His",
"transcript": "ENST00000334295.9",
"protein_id": "ENSP00000335144.3",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 300,
"cds_start": 688,
"cds_end": null,
"cds_length": 903,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": "NM_015476.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.559T>C",
"hgvs_p": "p.Tyr187His",
"transcript": "ENST00000383056.7",
"protein_id": "ENSP00000372530.2",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 257,
"cds_start": 559,
"cds_end": null,
"cds_length": 774,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.583T>C",
"hgvs_p": "p.Tyr195His",
"transcript": "NM_001271949.2",
"protein_id": "NP_001258878.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 265,
"cds_start": 583,
"cds_end": null,
"cds_length": 798,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.583T>C",
"hgvs_p": "p.Tyr195His",
"transcript": "ENST00000593035.5",
"protein_id": "ENSP00000467392.1",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 265,
"cds_start": 583,
"cds_end": null,
"cds_length": 798,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.559T>C",
"hgvs_p": "p.Tyr187His",
"transcript": "NM_001271950.2",
"protein_id": "NP_001258879.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 257,
"cds_start": 559,
"cds_end": null,
"cds_length": 774,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.394T>C",
"hgvs_p": "p.Tyr132His",
"transcript": "ENST00000590500.5",
"protein_id": "ENSP00000482262.1",
"transcript_support_level": 3,
"aa_start": 132,
"aa_end": null,
"aa_length": 161,
"cds_start": 394,
"cds_end": null,
"cds_length": 488,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.657+1429T>C",
"hgvs_p": null,
"transcript": "NM_001271951.2",
"protein_id": "NP_001258880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.657+1429T>C",
"hgvs_p": null,
"transcript": "ENST00000590842.5",
"protein_id": "ENSP00000464780.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.657+1429T>C",
"hgvs_p": null,
"transcript": "NM_001330572.2",
"protein_id": "NP_001317501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.657+1429T>C",
"hgvs_p": null,
"transcript": "ENST00000587129.5",
"protein_id": "ENSP00000465551.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.657+1429T>C",
"hgvs_p": null,
"transcript": "NM_001271956.2",
"protein_id": "NP_001258885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": -4,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
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"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.657+1429T>C",
"hgvs_p": null,
"transcript": "ENST00000614939.4",
"protein_id": "ENSP00000478553.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": -4,
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"cds_length": 699,
"cdna_start": null,
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"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.657+1429T>C",
"hgvs_p": null,
"transcript": "NM_001271953.2",
"protein_id": "NP_001258882.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.618+1429T>C",
"hgvs_p": null,
"transcript": "ENST00000587382.5",
"protein_id": "ENSP00000467204.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
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"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.525+1429T>C",
"hgvs_p": null,
"transcript": "ENST00000591906.5",
"protein_id": "ENSP00000468292.1",
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"aa_start": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.382+8354T>C",
"hgvs_p": null,
"transcript": "NM_001271955.2",
"protein_id": "NP_001258884.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.382+8354T>C",
"hgvs_p": null,
"transcript": "ENST00000610723.4",
"protein_id": "ENSP00000484407.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": -4,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.135+1429T>C",
"hgvs_p": null,
"transcript": "ENST00000590258.2",
"protein_id": "ENSP00000483592.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "n.225+1429T>C",
"hgvs_p": null,
"transcript": "ENST00000590652.5",
"protein_id": "ENSP00000479065.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.528+1429T>C",
"hgvs_p": null,
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"protein_id": "XP_005258299.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.513+1429T>C",
"hgvs_p": null,
"transcript": "XM_011525917.4",
"protein_id": "XP_011524219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "c.657+1429T>C",
"hgvs_p": null,
"transcript": "XM_017025701.3",
"protein_id": "XP_016881190.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 226,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2791,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "TPGS2",
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"hgvs_c": "c.528+1429T>C",
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"transcript": "XM_017025702.3",
"protein_id": "XP_016881191.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
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"cdna_length": 928,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "n.892+1429T>C",
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"transcript": "XR_007066142.1",
"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": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"hgvs_c": "n.763+1429T>C",
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"transcript": "XR_007066143.1",
"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": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TPGS2",
"gene_hgnc_id": 24561,
"dbsnp": "rs745539655",
"frequency_reference_population": 0.0000013837671,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138377,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32989251613616943,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.3073,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.625,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000334295.9",
"gene_symbol": "TPGS2",
"hgnc_id": 24561,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Tyr230His"
}
],
"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
}