← 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: 20-13534126-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=13534126&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 13534126,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017714.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "NM_017714.3",
"protein_id": "NP_060184.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 420,
"cds_start": 691,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337743.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017714.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "ENST00000337743.9",
"protein_id": "ENSP00000338624.4",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 420,
"cds_start": 691,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017714.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337743.9"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "ENST00000961261.1",
"protein_id": "ENSP00000631320.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 450,
"cds_start": 691,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961261.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "ENST00000861004.1",
"protein_id": "ENSP00000531063.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 420,
"cds_start": 691,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861004.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "ENST00000861007.1",
"protein_id": "ENSP00000531066.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 420,
"cds_start": 691,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861007.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "ENST00000861008.1",
"protein_id": "ENSP00000531067.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 420,
"cds_start": 691,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861008.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "ENST00000939534.1",
"protein_id": "ENSP00000609593.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 383,
"cds_start": 691,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939534.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.526A>C",
"hgvs_p": "p.Thr176Pro",
"transcript": "ENST00000939535.1",
"protein_id": "ENSP00000609594.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 365,
"cds_start": 526,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939535.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Thr164Pro",
"transcript": "ENST00000961257.1",
"protein_id": "ENSP00000631316.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 353,
"cds_start": 490,
"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": "ENST00000961257.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.385A>C",
"hgvs_p": "p.Thr129Pro",
"transcript": "NM_001323603.2",
"protein_id": "NP_001310532.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 318,
"cds_start": 385,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323603.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.385A>C",
"hgvs_p": "p.Thr129Pro",
"transcript": "NM_001323604.2",
"protein_id": "NP_001310533.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 318,
"cds_start": 385,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323604.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.622A>C",
"hgvs_p": "p.Thr208Pro",
"transcript": "ENST00000455532.5",
"protein_id": "ENSP00000400580.1",
"transcript_support_level": 5,
"aa_start": 208,
"aa_end": null,
"aa_length": 304,
"cds_start": 622,
"cds_end": null,
"cds_length": 916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455532.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.298A>C",
"hgvs_p": "p.Thr100Pro",
"transcript": "NM_001323602.2",
"protein_id": "NP_001310531.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 289,
"cds_start": 298,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323602.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.298A>C",
"hgvs_p": "p.Thr100Pro",
"transcript": "ENST00000861005.1",
"protein_id": "ENSP00000531064.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 289,
"cds_start": 298,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861005.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.298A>C",
"hgvs_p": "p.Thr100Pro",
"transcript": "ENST00000939537.1",
"protein_id": "ENSP00000609596.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 289,
"cds_start": 298,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939537.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.298A>C",
"hgvs_p": "p.Thr100Pro",
"transcript": "ENST00000961260.1",
"protein_id": "ENSP00000631319.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 289,
"cds_start": 298,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961260.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "XM_047440267.1",
"protein_id": "XP_047296223.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 420,
"cds_start": 691,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440267.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "XM_047440268.1",
"protein_id": "XP_047296224.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 420,
"cds_start": 691,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440268.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "XM_047440269.1",
"protein_id": "XP_047296225.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 397,
"cds_start": 691,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440269.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "XM_047440270.1",
"protein_id": "XP_047296226.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 350,
"cds_start": 691,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440270.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "XM_047440271.1",
"protein_id": "XP_047296227.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 338,
"cds_start": 691,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440271.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro",
"transcript": "XM_047440272.1",
"protein_id": "XP_047296228.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 338,
"cds_start": 691,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440272.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.385A>C",
"hgvs_p": "p.Thr129Pro",
"transcript": "XM_047440273.1",
"protein_id": "XP_047296229.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 318,
"cds_start": 385,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440273.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.385A>C",
"hgvs_p": "p.Thr129Pro",
"transcript": "XM_047440274.1",
"protein_id": "XP_047296230.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 318,
"cds_start": 385,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440274.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.298A>C",
"hgvs_p": "p.Thr100Pro",
"transcript": "XM_047440275.1",
"protein_id": "XP_047296231.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 289,
"cds_start": 298,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440275.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.133A>C",
"hgvs_p": "p.Thr45Pro",
"transcript": "XM_047440276.1",
"protein_id": "XP_047296232.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 234,
"cds_start": 133,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440276.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.*29A>C",
"hgvs_p": null,
"transcript": "XM_017027929.3",
"protein_id": "XP_016883418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027929.3"
},
{
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.568+35381A>C",
"hgvs_p": null,
"transcript": "ENST00000861006.1",
"protein_id": "ENSP00000531065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861006.1"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.404-50789A>C",
"hgvs_p": null,
"transcript": "ENST00000961258.1",
"protein_id": "ENSP00000631317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": null,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961258.1"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.283-5615A>C",
"hgvs_p": null,
"transcript": "ENST00000961259.1",
"protein_id": "ENSP00000631318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961259.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.283-50789A>C",
"hgvs_p": null,
"transcript": "ENST00000939536.1",
"protein_id": "ENSP00000609595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.588A>C",
"hgvs_p": null,
"transcript": "ENST00000465381.5",
"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": "ENST00000465381.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.775A>C",
"hgvs_p": null,
"transcript": "ENST00000480436.5",
"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": "ENST00000480436.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.697A>C",
"hgvs_p": null,
"transcript": "NR_136628.2",
"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_136628.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.617A>C",
"hgvs_p": null,
"transcript": "NR_136629.2",
"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_136629.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.884A>C",
"hgvs_p": null,
"transcript": "NR_136630.2",
"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_136630.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.964A>C",
"hgvs_p": null,
"transcript": "NR_136631.2",
"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_136631.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.804A>C",
"hgvs_p": null,
"transcript": "XR_001754319.3",
"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_001754319.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.804A>C",
"hgvs_p": null,
"transcript": "XR_007067463.1",
"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_007067463.1"
}
],
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"dbsnp": "rs946788478",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1296178698539734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.292,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0697,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.009,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_017714.3",
"gene_symbol": "TASP1",
"hgnc_id": 15859,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Thr231Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}