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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: 11-9021085-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9021085&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 9021085,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001367977.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.3047T>C",
"hgvs_p": "p.Leu1016Pro",
"transcript": "NM_001367977.2",
"protein_id": "NP_001354906.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649792.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367977.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.3047T>C",
"hgvs_p": "p.Leu1016Pro",
"transcript": "ENST00000649792.2",
"protein_id": "ENSP00000497523.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367977.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649792.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2384T>C",
"hgvs_p": "p.Leu795Pro",
"transcript": "ENST00000450649.6",
"protein_id": "ENSP00000415187.2",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 807,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450649.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2960T>C",
"hgvs_p": "p.Leu987Pro",
"transcript": "NM_001330199.3",
"protein_id": "NP_001317128.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 999,
"cds_start": 2960,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330199.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2960T>C",
"hgvs_p": "p.Leu987Pro",
"transcript": "ENST00000309263.7",
"protein_id": "ENSP00000310658.3",
"transcript_support_level": 5,
"aa_start": 987,
"aa_end": null,
"aa_length": 999,
"cds_start": 2960,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309263.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2954T>C",
"hgvs_p": "p.Leu985Pro",
"transcript": "ENST00000936074.1",
"protein_id": "ENSP00000606133.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 997,
"cds_start": 2954,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936074.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2942T>C",
"hgvs_p": "p.Leu981Pro",
"transcript": "ENST00000950246.1",
"protein_id": "ENSP00000620305.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 993,
"cds_start": 2942,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950246.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2930T>C",
"hgvs_p": "p.Leu977Pro",
"transcript": "ENST00000950245.1",
"protein_id": "ENSP00000620304.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 989,
"cds_start": 2930,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950245.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2876T>C",
"hgvs_p": "p.Leu959Pro",
"transcript": "NM_020974.4",
"protein_id": "NP_066025.2",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 971,
"cds_start": 2876,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020974.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2876T>C",
"hgvs_p": "p.Leu959Pro",
"transcript": "ENST00000520467.5",
"protein_id": "ENSP00000429969.1",
"transcript_support_level": 2,
"aa_start": 959,
"aa_end": null,
"aa_length": 971,
"cds_start": 2876,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520467.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2843T>C",
"hgvs_p": "p.Leu948Pro",
"transcript": "ENST00000899097.1",
"protein_id": "ENSP00000569156.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 960,
"cds_start": 2843,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899097.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2801T>C",
"hgvs_p": "p.Leu934Pro",
"transcript": "ENST00000936075.1",
"protein_id": "ENSP00000606134.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 946,
"cds_start": 2801,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936075.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2789T>C",
"hgvs_p": "p.Leu930Pro",
"transcript": "ENST00000950248.1",
"protein_id": "ENSP00000620307.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 942,
"cds_start": 2789,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950248.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2720T>C",
"hgvs_p": "p.Leu907Pro",
"transcript": "ENST00000899094.1",
"protein_id": "ENSP00000569153.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 919,
"cds_start": 2720,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899094.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2705T>C",
"hgvs_p": "p.Leu902Pro",
"transcript": "ENST00000950244.1",
"protein_id": "ENSP00000620303.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 914,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950244.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2672T>C",
"hgvs_p": "p.Leu891Pro",
"transcript": "ENST00000950247.1",
"protein_id": "ENSP00000620306.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 903,
"cds_start": 2672,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950247.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2663T>C",
"hgvs_p": "p.Leu888Pro",
"transcript": "ENST00000950243.1",
"protein_id": "ENSP00000620302.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 900,
"cds_start": 2663,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950243.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Leu868Pro",
"transcript": "ENST00000899096.1",
"protein_id": "ENSP00000569155.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 880,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899096.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2582T>C",
"hgvs_p": "p.Leu861Pro",
"transcript": "ENST00000899093.1",
"protein_id": "ENSP00000569152.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 873,
"cds_start": 2582,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899093.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2522T>C",
"hgvs_p": "p.Leu841Pro",
"transcript": "ENST00000950242.1",
"protein_id": "ENSP00000620301.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 853,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950242.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2459T>C",
"hgvs_p": "p.Leu820Pro",
"transcript": "ENST00000950241.1",
"protein_id": "ENSP00000620300.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 832,
"cds_start": 2459,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950241.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2411T>C",
"hgvs_p": "p.Leu804Pro",
"transcript": "ENST00000899098.1",
"protein_id": "ENSP00000569157.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 816,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000661716.1"
},
{
"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": 3,
"intron_rank": 1,
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"gene_symbol": "NRIP3-DT",
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"hgvs_c": "n.451+16542A>G",
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"transcript": "ENST00000670061.1",
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"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000670061.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "NRIP3-DT",
"gene_hgnc_id": 55524,
"hgvs_c": "n.404+16542A>G",
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"transcript": "ENST00000782976.1",
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"transcript_support_level": null,
"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782976.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRIP3-DT",
"gene_hgnc_id": 55524,
"hgvs_c": "n.456+16542A>G",
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"transcript": "NR_183663.1",
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"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": "pseudogene",
"feature": "NR_183663.1"
}
],
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"dbsnp": "rs375402593",
"frequency_reference_population": 0.0000013684215,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136842,
"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": 0.9058753252029419,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.928,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.215,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001367977.2",
"gene_symbol": "SCUBE2",
"hgnc_id": 30425,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3047T>C",
"hgvs_p": "p.Leu1016Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531592.1",
"gene_symbol": "NRIP3-DT",
"hgnc_id": 55524,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.383-9122A>G",
"hgvs_p": null
}
],
"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
}