← 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: 1-155201094-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155201094&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155201094,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000368378.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1440G>C",
"hgvs_p": "p.Gln480His",
"transcript": "NM_007112.5",
"protein_id": "NP_009043.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 956,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": "ENST00000368378.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1440G>C",
"hgvs_p": "p.Gln480His",
"transcript": "ENST00000368378.7",
"protein_id": "ENSP00000357362.3",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 956,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": "NM_007112.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1413G>C",
"hgvs_p": "p.Gln471His",
"transcript": "ENST00000541576.5",
"protein_id": "ENSP00000444792.2",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 947,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Gln9His",
"transcript": "ENST00000541990.5",
"protein_id": "ENSP00000437353.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 485,
"cds_start": 27,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Gln537His",
"transcript": "NM_001407490.1",
"protein_id": "NP_001394419.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 1013,
"cds_start": 1611,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1440G>C",
"hgvs_p": "p.Gln480His",
"transcript": "NM_001407487.1",
"protein_id": "NP_001394416.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 959,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1413G>C",
"hgvs_p": "p.Gln471His",
"transcript": "NM_001252607.2",
"protein_id": "NP_001239536.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 947,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1350G>C",
"hgvs_p": "p.Gln450His",
"transcript": "NM_001407554.1",
"protein_id": "NP_001394483.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 926,
"cds_start": 1350,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Gln442His",
"transcript": "NM_001407556.1",
"protein_id": "NP_001394485.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 918,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Gln442His",
"transcript": "NM_001407557.1",
"protein_id": "NP_001394486.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 918,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1440G>C",
"hgvs_p": "p.Gln480His",
"transcript": "NM_001407488.1",
"protein_id": "NP_001394417.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 894,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1080G>C",
"hgvs_p": "p.Gln360His",
"transcript": "NM_001252608.2",
"protein_id": "NP_001239537.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 836,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1080G>C",
"hgvs_p": "p.Gln360His",
"transcript": "ENST00000457183.6",
"protein_id": "ENSP00000392207.2",
"transcript_support_level": 2,
"aa_start": 360,
"aa_end": null,
"aa_length": 836,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Gln301His",
"transcript": "NM_001407559.1",
"protein_id": "NP_001394488.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 777,
"cds_start": 903,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.675G>C",
"hgvs_p": "p.Gln225His",
"transcript": "NM_001407560.1",
"protein_id": "NP_001394489.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 701,
"cds_start": 675,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.675G>C",
"hgvs_p": "p.Gln225His",
"transcript": "NM_001407561.1",
"protein_id": "NP_001394490.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 701,
"cds_start": 675,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.573G>C",
"hgvs_p": "p.Gln191His",
"transcript": "NM_001407562.1",
"protein_id": "NP_001394491.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 667,
"cds_start": 573,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Gln537His",
"transcript": "XM_011509926.3",
"protein_id": "XP_011508228.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 1016,
"cds_start": 1611,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Gln528His",
"transcript": "XM_011509927.3",
"protein_id": "XP_011508229.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1584,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Gln528His",
"transcript": "XM_047429292.1",
"protein_id": "XP_047285248.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1584,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 3945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "XM_011509928.3",
"protein_id": "XP_011508230.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 985,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Gln537His",
"transcript": "XM_011509930.3",
"protein_id": "XP_011508232.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 954,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Gln537His",
"transcript": "XM_047429301.1",
"protein_id": "XP_047285257.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 951,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Gln442His",
"transcript": "XM_011509931.2",
"protein_id": "XP_011508233.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 921,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Gln442His",
"transcript": "XM_011509932.3",
"protein_id": "XP_011508234.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 921,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Gln442His",
"transcript": "XM_047429305.1",
"protein_id": "XP_047285261.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 921,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Gln537His",
"transcript": "XM_047429308.1",
"protein_id": "XP_047285264.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 776,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.675G>C",
"hgvs_p": "p.Gln225His",
"transcript": "XM_011509936.2",
"protein_id": "XP_011508238.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 704,
"cds_start": 675,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Gln537His",
"transcript": "XM_047429322.1",
"protein_id": "XP_047285278.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 682,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Gln537His",
"transcript": "XM_047429323.1",
"protein_id": "XP_047285279.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 607,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Gln537His",
"transcript": "XM_047429324.1",
"protein_id": "XP_047285280.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 607,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1691G>C",
"hgvs_p": "p.Arg564Thr",
"transcript": "XM_047429326.1",
"protein_id": "XP_047285282.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 568,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "n.990G>C",
"hgvs_p": null,
"transcript": "ENST00000428962.2",
"protein_id": "ENSP00000404040.2",
"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": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "n.773G>C",
"hgvs_p": null,
"transcript": "ENST00000460050.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "n.1500G>C",
"hgvs_p": null,
"transcript": "ENST00000486260.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "n.1445G>C",
"hgvs_p": null,
"transcript": "NR_045553.2",
"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": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "n.1541G>C",
"hgvs_p": null,
"transcript": "NR_176392.1",
"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": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "n.1461G>C",
"hgvs_p": null,
"transcript": "NR_176393.1",
"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": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "n.2288G>C",
"hgvs_p": null,
"transcript": "XR_002957482.2",
"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": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1330-90G>C",
"hgvs_p": null,
"transcript": "NM_001407555.1",
"protein_id": "NP_001394484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": -4,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1216-90G>C",
"hgvs_p": null,
"transcript": "NM_001407558.1",
"protein_id": "NP_001394487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 881,
"cds_start": -4,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.978+268C>G",
"hgvs_p": null,
"transcript": "ENST00000422665.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.25+268C>G",
"hgvs_p": null,
"transcript": "ENST00000430312.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.550+268C>G",
"hgvs_p": null,
"transcript": "ENST00000453136.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "n.452-90G>C",
"hgvs_p": null,
"transcript": "ENST00000496332.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1022+268C>G",
"hgvs_p": null,
"transcript": "ENST00000685687.1",
"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": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.882+268C>G",
"hgvs_p": null,
"transcript": "ENST00000686282.1",
"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": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1050+268C>G",
"hgvs_p": null,
"transcript": "ENST00000701341.2",
"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": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.806+268C>G",
"hgvs_p": null,
"transcript": "ENST00000702000.1",
"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": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.910+268C>G",
"hgvs_p": null,
"transcript": "ENST00000702269.1",
"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": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.944+268C>G",
"hgvs_p": null,
"transcript": "ENST00000702355.1",
"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": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1018+268C>G",
"hgvs_p": null,
"transcript": "ENST00000702560.1",
"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": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.859+268C>G",
"hgvs_p": null,
"transcript": "ENST00000702879.1",
"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": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.741+268C>G",
"hgvs_p": null,
"transcript": "ENST00000702887.1",
"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": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.538+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730286.1",
"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": 704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.886+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730287.1",
"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": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.934+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730288.1",
"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": 1388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1026+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730289.1",
"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": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.643+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730290.1",
"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": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.811+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730291.1",
"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": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1026+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730292.1",
"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": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1085+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730293.1",
"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": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.639+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730294.1",
"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": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.637+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730295.1",
"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": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.851+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730296.1",
"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": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.806+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730297.1",
"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": 1261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.839+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730298.1",
"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": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1077+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730299.1",
"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": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.715+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730300.1",
"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": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.899+268C>G",
"hgvs_p": null,
"transcript": "ENST00000730301.1",
"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": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1026+268C>G",
"hgvs_p": null,
"transcript": "NR_183234.1",
"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": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1022+268C>G",
"hgvs_p": null,
"transcript": "NR_183235.1",
"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": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1022+268C>G",
"hgvs_p": null,
"transcript": "NR_183236.1",
"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": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1026+268C>G",
"hgvs_p": null,
"transcript": "NR_183237.1",
"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": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "THBS3-AS1",
"gene_hgnc_id": 40582,
"hgvs_c": "n.1085+268C>G",
"hgvs_p": null,
"transcript": "NR_183238.1",
"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": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"dbsnp": "rs193920931",
"frequency_reference_population": 6.840507e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84051e-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": 0.31068912148475647,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 1,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.5,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5591,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.923,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.88,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999997012549539,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000368378.7",
"gene_symbol": "THBS3",
"hgnc_id": 11787,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1440G>C",
"hgvs_p": "p.Gln480His"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000422665.2",
"gene_symbol": "THBS3-AS1",
"hgnc_id": 40582,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.978+268C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}