← Back to variant description
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: 10-133279872-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133279872&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133279872,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000252936.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Arg868Leu",
"transcript": "NM_006659.4",
"protein_id": "NP_006650.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 902,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2692,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": "ENST00000252936.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Arg868Leu",
"transcript": "ENST00000252936.8",
"protein_id": "ENSP00000252936.3",
"transcript_support_level": 2,
"aa_start": 868,
"aa_end": null,
"aa_length": 902,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2692,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": "NM_006659.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2687G>T",
"hgvs_p": "p.Arg896Leu",
"transcript": "ENST00000543663.6",
"protein_id": "ENSP00000446093.1",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 930,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2739,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2687G>T",
"hgvs_p": "p.Arg896Leu",
"transcript": "NM_001256617.2",
"protein_id": "NP_001243546.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 930,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2776,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2672G>T",
"hgvs_p": "p.Arg891Leu",
"transcript": "ENST00000682161.1",
"protein_id": "ENSP00000507509.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 925,
"cds_start": 2672,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2866,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2636G>T",
"hgvs_p": "p.Arg879Leu",
"transcript": "ENST00000682905.1",
"protein_id": "ENSP00000507305.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 913,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Arg868Leu",
"transcript": "ENST00000682123.1",
"protein_id": "ENSP00000507610.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 902,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Arg868Leu",
"transcript": "ENST00000682515.1",
"protein_id": "ENSP00000506731.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 902,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Arg868Leu",
"transcript": "ENST00000683612.1",
"protein_id": "ENSP00000507482.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 902,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2570G>T",
"hgvs_p": "p.Arg857Leu",
"transcript": "ENST00000683014.1",
"protein_id": "ENSP00000507631.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 891,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2764,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Arg828Leu",
"transcript": "ENST00000683383.1",
"protein_id": "ENSP00000507601.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 862,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2677,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2474G>T",
"hgvs_p": "p.Arg825Leu",
"transcript": "ENST00000683060.1",
"protein_id": "ENSP00000508258.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 859,
"cds_start": 2474,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2213G>T",
"hgvs_p": "p.Arg738Leu",
"transcript": "NM_001256618.2",
"protein_id": "NP_001243547.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 772,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2213G>T",
"hgvs_p": "p.Arg738Leu",
"transcript": "ENST00000417178.7",
"protein_id": "ENSP00000395666.2",
"transcript_support_level": 2,
"aa_start": 738,
"aa_end": null,
"aa_length": 772,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.2454G>T",
"hgvs_p": null,
"transcript": "ENST00000368562.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.280G>T",
"hgvs_p": null,
"transcript": "ENST00000477923.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*400G>T",
"hgvs_p": null,
"transcript": "ENST00000482278.5",
"protein_id": "ENSP00000436438.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2108G>T",
"hgvs_p": null,
"transcript": "ENST00000682093.1",
"protein_id": "ENSP00000508354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.3830G>T",
"hgvs_p": null,
"transcript": "ENST00000682256.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.3039G>T",
"hgvs_p": null,
"transcript": "ENST00000682332.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.1785G>T",
"hgvs_p": null,
"transcript": "ENST00000682591.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2631G>T",
"hgvs_p": null,
"transcript": "ENST00000682631.1",
"protein_id": "ENSP00000507220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.2619G>T",
"hgvs_p": null,
"transcript": "ENST00000682712.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*846G>T",
"hgvs_p": null,
"transcript": "ENST00000682990.1",
"protein_id": "ENSP00000506868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.1716G>T",
"hgvs_p": null,
"transcript": "ENST00000683308.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.3120G>T",
"hgvs_p": null,
"transcript": "ENST00000683673.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2410G>T",
"hgvs_p": null,
"transcript": "ENST00000683786.1",
"protein_id": "ENSP00000508200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2582G>T",
"hgvs_p": null,
"transcript": "ENST00000683829.1",
"protein_id": "ENSP00000508146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2327G>T",
"hgvs_p": null,
"transcript": "ENST00000684478.1",
"protein_id": "ENSP00000507361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*919G>T",
"hgvs_p": null,
"transcript": "ENST00000684487.1",
"protein_id": "ENSP00000507802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.3323G>T",
"hgvs_p": null,
"transcript": "NR_046330.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*400G>T",
"hgvs_p": null,
"transcript": "ENST00000482278.5",
"protein_id": "ENSP00000436438.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2108G>T",
"hgvs_p": null,
"transcript": "ENST00000682093.1",
"protein_id": "ENSP00000508354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2631G>T",
"hgvs_p": null,
"transcript": "ENST00000682631.1",
"protein_id": "ENSP00000507220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*846G>T",
"hgvs_p": null,
"transcript": "ENST00000682990.1",
"protein_id": "ENSP00000506868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2410G>T",
"hgvs_p": null,
"transcript": "ENST00000683786.1",
"protein_id": "ENSP00000508200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2582G>T",
"hgvs_p": null,
"transcript": "ENST00000683829.1",
"protein_id": "ENSP00000508146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*2327G>T",
"hgvs_p": null,
"transcript": "ENST00000684478.1",
"protein_id": "ENSP00000507361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.*919G>T",
"hgvs_p": null,
"transcript": "ENST00000684487.1",
"protein_id": "ENSP00000507802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"dbsnp": "rs372338719",
"frequency_reference_population": 6.8657744e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86577e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29406747221946716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.1904,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.789,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000252936.8",
"gene_symbol": "TUBGCP2",
"hgnc_id": 18599,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Arg868Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}