← 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: 10-119577100-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119577100&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119577100,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001033925.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.841A>G",
"hgvs_p": "p.Met281Val",
"transcript": "NM_003252.4",
"protein_id": "NP_003243.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 375,
"cds_start": 841,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000436547.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003252.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.841A>G",
"hgvs_p": "p.Met281Val",
"transcript": "ENST00000436547.7",
"protein_id": "ENSP00000394902.2",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 375,
"cds_start": 841,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003252.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436547.7"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.*809A>G",
"hgvs_p": null,
"transcript": "ENST00000497671.5",
"protein_id": "ENSP00000431009.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497671.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.*809A>G",
"hgvs_p": null,
"transcript": "ENST00000497671.5",
"protein_id": "ENSP00000431009.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497671.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Met298Val",
"transcript": "ENST00000937094.1",
"protein_id": "ENSP00000607153.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 399,
"cds_start": 892,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937094.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.910A>G",
"hgvs_p": "p.Met304Val",
"transcript": "ENST00000899116.1",
"protein_id": "ENSP00000569175.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 398,
"cds_start": 910,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899116.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Met298Val",
"transcript": "NM_001033925.2",
"protein_id": "NP_001029097.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 392,
"cds_start": 892,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033925.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Met298Val",
"transcript": "ENST00000369093.6",
"protein_id": "ENSP00000358089.2",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 392,
"cds_start": 892,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369093.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.841A>G",
"hgvs_p": "p.Met281Val",
"transcript": "ENST00000899115.1",
"protein_id": "ENSP00000569174.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 382,
"cds_start": 841,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899115.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Met287Val",
"transcript": "ENST00000899117.1",
"protein_id": "ENSP00000569176.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 381,
"cds_start": 859,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899117.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.838A>G",
"hgvs_p": "p.Met280Val",
"transcript": "ENST00000937095.1",
"protein_id": "ENSP00000607154.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 374,
"cds_start": 838,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937095.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Met259Val",
"transcript": "NM_001323968.2",
"protein_id": "NP_001310897.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 360,
"cds_start": 775,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323968.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Met259Val",
"transcript": "NM_001323970.2",
"protein_id": "NP_001310899.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 353,
"cds_start": 775,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323970.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Met248Val",
"transcript": "ENST00000937096.1",
"protein_id": "ENSP00000607155.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 342,
"cds_start": 742,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937096.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Met242Val",
"transcript": "NM_001323969.2",
"protein_id": "NP_001310898.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 336,
"cds_start": 724,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323969.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Met158Val",
"transcript": "NM_001323964.2",
"protein_id": "NP_001310893.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 252,
"cds_start": 472,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323964.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Met158Val",
"transcript": "NM_001323965.2",
"protein_id": "NP_001310894.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 252,
"cds_start": 472,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323965.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Met158Val",
"transcript": "NM_001323967.2",
"protein_id": "NP_001310896.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 252,
"cds_start": 472,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323967.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Met259Val",
"transcript": "XM_024448151.2",
"protein_id": "XP_024303919.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 353,
"cds_start": 775,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448151.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Met259Val",
"transcript": "XM_047425698.1",
"protein_id": "XP_047281654.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 353,
"cds_start": 775,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425698.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Met259Val",
"transcript": "XM_047425699.1",
"protein_id": "XP_047281655.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 353,
"cds_start": 775,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425699.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Met298Val",
"transcript": "XM_047425701.1",
"protein_id": "XP_047281657.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 309,
"cds_start": 892,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.1242A>G",
"hgvs_p": null,
"transcript": "ENST00000369087.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000369087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.115A>G",
"hgvs_p": null,
"transcript": "ENST00000463089.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463089.6"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.871A>G",
"hgvs_p": null,
"transcript": "ENST00000470781.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470781.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.1340A>G",
"hgvs_p": null,
"transcript": "ENST00000489822.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489822.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.1340A>G",
"hgvs_p": null,
"transcript": "NR_136661.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136661.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.1459A>G",
"hgvs_p": null,
"transcript": "NR_136662.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136662.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.1402A>G",
"hgvs_p": null,
"transcript": "NR_136663.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136663.2"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"hgvs_c": "n.1391A>G",
"hgvs_p": null,
"transcript": "XR_001747194.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001747194.3"
}
],
"gene_symbol": "TIAL1",
"gene_hgnc_id": 11804,
"dbsnp": null,
"frequency_reference_population": 6.842098e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8421e-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": 0.2292492687702179,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.0647,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.901,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001033925.2",
"gene_symbol": "TIAL1",
"hgnc_id": 11804,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Met298Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}