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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: 2-101007870-A-AAAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=101007870&ref=A&alt=AAAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 101007870,
"ref": "A",
"alt": "AAAG",
"effect": "conservative_inframe_insertion",
"transcript": "NM_001330348.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3416_3418dupCTT",
"hgvs_p": "p.Thr1139_Phe1140insSer",
"transcript": "NM_001330348.2",
"protein_id": "NP_001317277.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3418,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409318.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330348.2"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3416_3418dupCTT",
"hgvs_p": "p.Thr1139_Phe1140insSer",
"transcript": "ENST00000409318.2",
"protein_id": "ENSP00000386856.1",
"transcript_support_level": 5,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3418,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330348.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409318.2"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3371_3373dupCTT",
"hgvs_p": "p.Thr1124_Phe1125insSer",
"transcript": "ENST00000376840.8",
"protein_id": "ENSP00000366036.4",
"transcript_support_level": 1,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376840.8"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3425_3427dupCTT",
"hgvs_p": "p.Thr1142_Phe1143insSer",
"transcript": "ENST00000870702.1",
"protein_id": "ENSP00000540761.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3427,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870702.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3395_3397dupCTT",
"hgvs_p": "p.Thr1132_Phe1133insSer",
"transcript": "ENST00000870709.1",
"protein_id": "ENSP00000540768.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3397,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870709.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3371_3373dupCTT",
"hgvs_p": "p.Thr1124_Phe1125insSer",
"transcript": "NM_001102426.3",
"protein_id": "NP_001095896.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102426.3"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3368_3370dupCTT",
"hgvs_p": "p.Thr1123_Phe1124insSer",
"transcript": "ENST00000920764.1",
"protein_id": "ENSP00000590823.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3370,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920764.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3356_3358dupCTT",
"hgvs_p": "p.Thr1119_Phe1120insSer",
"transcript": "ENST00000870710.1",
"protein_id": "ENSP00000540769.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870710.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3311_3313dupCTT",
"hgvs_p": "p.Thr1104_Phe1105insSer",
"transcript": "ENST00000958232.1",
"protein_id": "ENSP00000628291.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958232.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3284_3286dupCTT",
"hgvs_p": "p.Thr1095_Phe1096insSer",
"transcript": "ENST00000920765.1",
"protein_id": "ENSP00000590824.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3286,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920765.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3266_3268dupCTT",
"hgvs_p": "p.Thr1089_Phe1090insSer",
"transcript": "ENST00000870703.1",
"protein_id": "ENSP00000540762.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3268,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870703.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3260_3262dupCTT",
"hgvs_p": "p.Thr1087_Phe1088insSer",
"transcript": "ENST00000870706.1",
"protein_id": "ENSP00000540765.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870706.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3149_3151dupCTT",
"hgvs_p": "p.Thr1050_Phe1051insSer",
"transcript": "ENST00000870705.1",
"protein_id": "ENSP00000540764.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870705.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3083_3085dupCTT",
"hgvs_p": "p.Thr1028_Phe1029insSer",
"transcript": "ENST00000870704.1",
"protein_id": "ENSP00000540763.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3085,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870704.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3068_3070dupCTT",
"hgvs_p": "p.Thr1023_Phe1024insSer",
"transcript": "ENST00000958229.1",
"protein_id": "ENSP00000628288.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1039,
"cds_start": 3070,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958229.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3038_3040dupCTT",
"hgvs_p": "p.Thr1013_Phe1014insSer",
"transcript": "ENST00000870707.1",
"protein_id": "ENSP00000540766.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1029,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870707.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.3005_3007dupCTT",
"hgvs_p": "p.Thr1002_Phe1003insSer",
"transcript": "ENST00000920766.1",
"protein_id": "ENSP00000590825.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1018,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920766.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.2993_2995dupCTT",
"hgvs_p": "p.Thr998_Phe999insSer",
"transcript": "ENST00000958231.1",
"protein_id": "ENSP00000628290.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958231.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.2738_2740dupCTT",
"hgvs_p": "p.Thr913_Phe914insSer",
"transcript": "ENST00000958230.1",
"protein_id": "ENSP00000628289.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 929,
"cds_start": 2740,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958230.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.2693_2695dupCTT",
"hgvs_p": "p.Thr898_Phe899insSer",
"transcript": "ENST00000870708.1",
"protein_id": "ENSP00000540767.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 914,
"cds_start": 2695,
"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": "ENST00000870708.1"
},
{
"aa_ref": "F",
"aa_alt": "SF",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"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.2096_2098dupCTT",
"hgvs_p": "p.Thr699_Phe700insSer",
"transcript": "ENST00000958228.1",
"protein_id": "ENSP00000628287.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 715,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"feature": "ENST00000958228.1"
},
{
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"strand": true,
"consequences": [
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],
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"transcript": "ENST00000409038.5",
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},
{
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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+1800_346+1802dupAAG",
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"transcript": "NM_001098577.3",
"protein_id": "NP_001092047.1",
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"aa_start": null,
"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001098577.3"
},
{
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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+1800_346+1802dupAAG",
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"transcript": "ENST00000409028.8",
"protein_id": "ENSP00000386717.3",
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"aa_end": null,
"aa_length": 128,
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"cds_end": null,
"cds_length": 387,
"cdna_start": null,
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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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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "RPL31",
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"transcript": "ENST00000409650.5",
"protein_id": "ENSP00000386271.1",
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"aa_end": null,
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"feature": "ENST00000409650.5"
},
{
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"intron_variant"
],
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"gene_symbol": "RPL31",
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"transcript": "ENST00000441435.1",
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"biotype": "protein_coding",
"feature": "ENST00000441435.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
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"exon_count": 19,
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"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "n.3382_3384dupCTT",
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"transcript": "NR_138475.2",
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"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_138475.2"
}
],
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"dbsnp": "rs150740812",
"frequency_reference_population": 0.010183634,
"hom_count_reference_population": 1370,
"allele_count_reference_population": 16435,
"gnomad_exomes_af": 0.00570914,
"gnomad_genomes_af": 0.0531628,
"gnomad_exomes_ac": 8345,
"gnomad_genomes_ac": 8090,
"gnomad_exomes_homalt": 655,
"gnomad_genomes_homalt": 715,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.025,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 10,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001330348.2",
"gene_symbol": "TBC1D8",
"hgnc_id": 17791,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3416_3418dupCTT",
"hgvs_p": "p.Thr1139_Phe1140insSer"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001098577.3",
"gene_symbol": "RPL31",
"hgnc_id": 10334,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.346+1800_346+1802dupAAG",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}