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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: 2-101010966-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=101010966&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 101010966,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330348.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Lys993Arg",
"transcript": "NM_001330348.2",
"protein_id": "NP_001317277.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1155,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": "ENST00000409318.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330348.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Lys993Arg",
"transcript": "ENST00000409318.2",
"protein_id": "ENSP00000386856.1",
"transcript_support_level": 5,
"aa_start": 993,
"aa_end": null,
"aa_length": 1155,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": "NM_001330348.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409318.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2933A>G",
"hgvs_p": "p.Lys978Arg",
"transcript": "ENST00000376840.8",
"protein_id": "ENSP00000366036.4",
"transcript_support_level": 1,
"aa_start": 978,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376840.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2987A>G",
"hgvs_p": "p.Lys996Arg",
"transcript": "ENST00000870702.1",
"protein_id": "ENSP00000540761.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2987,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 3172,
"cdna_end": null,
"cdna_length": 5548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870702.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2957A>G",
"hgvs_p": "p.Lys986Arg",
"transcript": "ENST00000870709.1",
"protein_id": "ENSP00000540768.1",
"transcript_support_level": null,
"aa_start": 986,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2957,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 3086,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870709.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2933A>G",
"hgvs_p": "p.Lys978Arg",
"transcript": "NM_001102426.3",
"protein_id": "NP_001095896.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102426.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2930A>G",
"hgvs_p": "p.Lys977Arg",
"transcript": "ENST00000920764.1",
"protein_id": "ENSP00000590823.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2930,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920764.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2933A>G",
"hgvs_p": "p.Lys978Arg",
"transcript": "ENST00000870710.1",
"protein_id": "ENSP00000540769.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870710.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2873A>G",
"hgvs_p": "p.Lys958Arg",
"transcript": "ENST00000958232.1",
"protein_id": "ENSP00000628291.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2873,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958232.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2846A>G",
"hgvs_p": "p.Lys949Arg",
"transcript": "ENST00000920765.1",
"protein_id": "ENSP00000590824.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 3041,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920765.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2828A>G",
"hgvs_p": "p.Lys943Arg",
"transcript": "ENST00000870703.1",
"protein_id": "ENSP00000540762.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870703.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2822A>G",
"hgvs_p": "p.Lys941Arg",
"transcript": "ENST00000870706.1",
"protein_id": "ENSP00000540765.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870706.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2711A>G",
"hgvs_p": "p.Lys904Arg",
"transcript": "ENST00000870705.1",
"protein_id": "ENSP00000540764.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2711,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870705.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2645A>G",
"hgvs_p": "p.Lys882Arg",
"transcript": "ENST00000870704.1",
"protein_id": "ENSP00000540763.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2645,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870704.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Lys877Arg",
"transcript": "ENST00000958229.1",
"protein_id": "ENSP00000628288.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 2779,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958229.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2600A>G",
"hgvs_p": "p.Lys867Arg",
"transcript": "ENST00000870707.1",
"protein_id": "ENSP00000540766.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2749,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870707.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2567A>G",
"hgvs_p": "p.Lys856Arg",
"transcript": "ENST00000920766.1",
"protein_id": "ENSP00000590825.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2567,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 2742,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920766.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2555A>G",
"hgvs_p": "p.Lys852Arg",
"transcript": "ENST00000958231.1",
"protein_id": "ENSP00000628290.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2555,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2684,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958231.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Lys767Arg",
"transcript": "ENST00000958230.1",
"protein_id": "ENSP00000628289.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 929,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958230.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2255A>G",
"hgvs_p": "p.Lys752Arg",
"transcript": "ENST00000870708.1",
"protein_id": "ENSP00000540767.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 914,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870708.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.1658A>G",
"hgvs_p": "p.Lys553Arg",
"transcript": "ENST00000958228.1",
"protein_id": "ENSP00000628287.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 715,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1853,
"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+4895T>C",
"hgvs_p": null,
"transcript": "ENST00000409038.5",
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"aa_length": 130,
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"cds_length": 393,
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"cdna_length": 817,
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"biotype": "protein_coding",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 4,
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"transcript": "NM_001098577.3",
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"cdna_length": 1100,
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"biotype": "protein_coding",
"feature": "NM_001098577.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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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+4895T>C",
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"transcript": "ENST00000409028.8",
"protein_id": "ENSP00000386717.3",
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"aa_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000409028.8"
},
{
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"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+4895T>C",
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"transcript": "ENST00000409650.5",
"protein_id": "ENSP00000386271.1",
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"aa_end": null,
"aa_length": 120,
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"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 770,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000409650.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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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+4895T>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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
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"hgvs_c": "n.2944A>G",
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"transcript": "NR_138475.2",
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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": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_138475.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "n.*74A>G",
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"transcript": "ENST00000494011.1",
"protein_id": null,
"transcript_support_level": 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": 660,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494011.1"
}
],
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"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": 0.12830734252929688,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.1016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.258,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330348.2",
"gene_symbol": "TBC1D8",
"hgnc_id": 17791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Lys993Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001098577.3",
"gene_symbol": "RPL31",
"hgnc_id": 10334,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.346+4895T>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
}