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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: 11-9021929-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9021929&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 9021929,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001367977.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ile961Val",
"transcript": "NM_001367977.2",
"protein_id": "NP_001354906.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2952,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "ENST00000649792.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367977.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ile961Val",
"transcript": "ENST00000649792.2",
"protein_id": "ENSP00000497523.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2952,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "NM_001367977.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649792.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2218A>G",
"hgvs_p": "p.Ile740Val",
"transcript": "ENST00000450649.6",
"protein_id": "ENSP00000415187.2",
"transcript_support_level": 1,
"aa_start": 740,
"aa_end": null,
"aa_length": 807,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450649.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2794A>G",
"hgvs_p": "p.Ile932Val",
"transcript": "NM_001330199.3",
"protein_id": "NP_001317128.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 999,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330199.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2794A>G",
"hgvs_p": "p.Ile932Val",
"transcript": "ENST00000309263.7",
"protein_id": "ENSP00000310658.3",
"transcript_support_level": 5,
"aa_start": 932,
"aa_end": null,
"aa_length": 999,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 2867,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309263.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2788A>G",
"hgvs_p": "p.Ile930Val",
"transcript": "ENST00000936074.1",
"protein_id": "ENSP00000606133.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 997,
"cds_start": 2788,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936074.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2776A>G",
"hgvs_p": "p.Ile926Val",
"transcript": "ENST00000950246.1",
"protein_id": "ENSP00000620305.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 993,
"cds_start": 2776,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 3054,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950246.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2764A>G",
"hgvs_p": "p.Ile922Val",
"transcript": "ENST00000950245.1",
"protein_id": "ENSP00000620304.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 989,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950245.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2710A>G",
"hgvs_p": "p.Ile904Val",
"transcript": "NM_020974.4",
"protein_id": "NP_066025.2",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 971,
"cds_start": 2710,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020974.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2710A>G",
"hgvs_p": "p.Ile904Val",
"transcript": "ENST00000520467.5",
"protein_id": "ENSP00000429969.1",
"transcript_support_level": 2,
"aa_start": 904,
"aa_end": null,
"aa_length": 971,
"cds_start": 2710,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520467.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2677A>G",
"hgvs_p": "p.Ile893Val",
"transcript": "ENST00000899097.1",
"protein_id": "ENSP00000569156.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 960,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2746,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899097.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2635A>G",
"hgvs_p": "p.Ile879Val",
"transcript": "ENST00000936075.1",
"protein_id": "ENSP00000606134.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 946,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936075.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2623A>G",
"hgvs_p": "p.Ile875Val",
"transcript": "ENST00000950248.1",
"protein_id": "ENSP00000620307.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 942,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2787,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950248.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2554A>G",
"hgvs_p": "p.Ile852Val",
"transcript": "ENST00000899094.1",
"protein_id": "ENSP00000569153.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 919,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899094.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2416A>G",
"hgvs_p": "p.Ile806Val",
"transcript": "ENST00000950244.1",
"protein_id": "ENSP00000620303.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 914,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950244.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2506A>G",
"hgvs_p": "p.Ile836Val",
"transcript": "ENST00000950247.1",
"protein_id": "ENSP00000620306.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 903,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950247.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2497A>G",
"hgvs_p": "p.Ile833Val",
"transcript": "ENST00000950243.1",
"protein_id": "ENSP00000620302.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 900,
"cds_start": 2497,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950243.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2437A>G",
"hgvs_p": "p.Ile813Val",
"transcript": "ENST00000899096.1",
"protein_id": "ENSP00000569155.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 880,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899096.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2416A>G",
"hgvs_p": "p.Ile806Val",
"transcript": "ENST00000899093.1",
"protein_id": "ENSP00000569152.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 873,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 4338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899093.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2356A>G",
"hgvs_p": "p.Ile786Val",
"transcript": "ENST00000950242.1",
"protein_id": "ENSP00000620301.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 853,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950242.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2293A>G",
"hgvs_p": "p.Ile765Val",
"transcript": "ENST00000950241.1",
"protein_id": "ENSP00000620300.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 832,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950241.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Ile749Val",
"transcript": "ENST00000899098.1",
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"gene_symbol": "NRIP3-DT",
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"hgvs_c": "n.370+17386T>C",
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"transcript": "ENST00000661716.1",
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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,
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"cdna_length": 3880,
"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,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "NRIP3-DT",
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"hgvs_c": "n.451+17386T>C",
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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,
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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",
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"hgvs_c": "n.405-16985T>C",
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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": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782976.1"
},
{
"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": 3,
"intron_rank": 1,
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"gene_symbol": "NRIP3-DT",
"gene_hgnc_id": 55524,
"hgvs_c": "n.456+17386T>C",
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"transcript": "NR_183663.1",
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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": 3848,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_183663.1"
}
],
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"dbsnp": "rs1334161250",
"frequency_reference_population": 0.0000020526772,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205268,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49982720613479614,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.55,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.276,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001367977.2",
"gene_symbol": "SCUBE2",
"hgnc_id": 30425,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ile961Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531592.1",
"gene_symbol": "NRIP3-DT",
"hgnc_id": 55524,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.383-8278T>C",
"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
}