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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: 2-101008246-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=101008246&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 101008246,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330348.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3043C>G",
"hgvs_p": "p.Leu1015Val",
"transcript": "NM_001330348.2",
"protein_id": "NP_001317277.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 3172,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": "ENST00000409318.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330348.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3043C>G",
"hgvs_p": "p.Leu1015Val",
"transcript": "ENST00000409318.2",
"protein_id": "ENSP00000386856.1",
"transcript_support_level": 5,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 3172,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": "NM_001330348.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409318.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2998C>G",
"hgvs_p": "p.Leu1000Val",
"transcript": "ENST00000376840.8",
"protein_id": "ENSP00000366036.4",
"transcript_support_level": 1,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376840.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3052C>G",
"hgvs_p": "p.Leu1018Val",
"transcript": "ENST00000870702.1",
"protein_id": "ENSP00000540761.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 5548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870702.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3022C>G",
"hgvs_p": "p.Leu1008Val",
"transcript": "ENST00000870709.1",
"protein_id": "ENSP00000540768.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3022,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 3151,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870709.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2998C>G",
"hgvs_p": "p.Leu1000Val",
"transcript": "NM_001102426.3",
"protein_id": "NP_001095896.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102426.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2995C>G",
"hgvs_p": "p.Leu999Val",
"transcript": "ENST00000920764.1",
"protein_id": "ENSP00000590823.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 3190,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920764.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2983C>G",
"hgvs_p": "p.Leu995Val",
"transcript": "ENST00000870710.1",
"protein_id": "ENSP00000540769.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3112,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870710.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2938C>G",
"hgvs_p": "p.Leu980Val",
"transcript": "ENST00000958232.1",
"protein_id": "ENSP00000628291.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 3065,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958232.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2911C>G",
"hgvs_p": "p.Leu971Val",
"transcript": "ENST00000920765.1",
"protein_id": "ENSP00000590824.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2911,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 3106,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920765.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2893C>G",
"hgvs_p": "p.Leu965Val",
"transcript": "ENST00000870703.1",
"protein_id": "ENSP00000540762.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870703.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2887C>G",
"hgvs_p": "p.Leu963Val",
"transcript": "ENST00000870706.1",
"protein_id": "ENSP00000540765.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2887,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870706.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2776C>G",
"hgvs_p": "p.Leu926Val",
"transcript": "ENST00000870705.1",
"protein_id": "ENSP00000540764.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870705.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2710C>G",
"hgvs_p": "p.Leu904Val",
"transcript": "ENST00000870704.1",
"protein_id": "ENSP00000540763.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2883,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870704.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2695C>G",
"hgvs_p": "p.Leu899Val",
"transcript": "ENST00000958229.1",
"protein_id": "ENSP00000628288.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2695,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 2844,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958229.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Leu889Val",
"transcript": "ENST00000870707.1",
"protein_id": "ENSP00000540766.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2665,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2814,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870707.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2632C>G",
"hgvs_p": "p.Leu878Val",
"transcript": "ENST00000920766.1",
"protein_id": "ENSP00000590825.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 2807,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920766.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2620C>G",
"hgvs_p": "p.Leu874Val",
"transcript": "ENST00000958231.1",
"protein_id": "ENSP00000628290.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2620,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2749,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958231.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2365C>G",
"hgvs_p": "p.Leu789Val",
"transcript": "ENST00000958230.1",
"protein_id": "ENSP00000628289.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 929,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958230.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2320C>G",
"hgvs_p": "p.Leu774Val",
"transcript": "ENST00000870708.1",
"protein_id": "ENSP00000540767.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 914,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870708.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.1723C>G",
"hgvs_p": "p.Leu575Val",
"transcript": "ENST00000958228.1",
"protein_id": "ENSP00000628287.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 715,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL31",
"gene_hgnc_id": 10334,
"hgvs_c": "c.346+2175G>C",
"hgvs_p": null,
"transcript": "ENST00000409038.5",
"protein_id": "ENSP00000386737.1",
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"aa_length": 130,
"cds_start": null,
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"cdna_length": 817,
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"biotype": "protein_coding",
"feature": "ENST00000409038.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "RPL31",
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"hgvs_c": "c.346+2175G>C",
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"transcript": "NM_001098577.3",
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "RPL31",
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"transcript": "ENST00000409028.8",
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"biotype": "protein_coding",
"feature": "ENST00000409028.8"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "RPL31",
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"transcript": "ENST00000409650.5",
"protein_id": "ENSP00000386271.1",
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"aa_length": 120,
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"biotype": "protein_coding",
"feature": "ENST00000409650.5"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "RPL31",
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"hgvs_c": "c.307+2175G>C",
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"transcript": "ENST00000441435.1",
"protein_id": "ENSP00000408172.1",
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"aa_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000441435.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
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"hgvs_c": "n.3009C>G",
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"transcript": "NR_138475.2",
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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": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_138475.2"
}
],
"gene_symbol": "TBC1D8",
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"dbsnp": null,
"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": 0.5176134705543518,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.278,
"revel_prediction": "Benign",
"alphamissense_score": 0.2887,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.017,
"phylop100way_prediction": "Benign",
"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": 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_001330348.2",
"gene_symbol": "TBC1D8",
"hgnc_id": 17791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3043C>G",
"hgvs_p": "p.Leu1015Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001098577.3",
"gene_symbol": "RPL31",
"hgnc_id": 10334,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.346+2175G>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
}