← 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: 20-13390451-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=13390451&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 13390451,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_017714.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1172C>G",
"hgvs_p": "p.Thr391Ser",
"transcript": "NM_017714.3",
"protein_id": "NP_060184.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": "ENST00000337743.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017714.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1172C>G",
"hgvs_p": "p.Thr391Ser",
"transcript": "ENST00000337743.9",
"protein_id": "ENSP00000338624.4",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": "NM_017714.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337743.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1262C>G",
"hgvs_p": "p.Thr421Ser",
"transcript": "ENST00000961261.1",
"protein_id": "ENSP00000631320.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 450,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961261.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1172C>G",
"hgvs_p": "p.Thr391Ser",
"transcript": "ENST00000861004.1",
"protein_id": "ENSP00000531063.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861004.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1172C>G",
"hgvs_p": "p.Thr391Ser",
"transcript": "ENST00000861007.1",
"protein_id": "ENSP00000531066.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861007.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1172C>G",
"hgvs_p": "p.Thr391Ser",
"transcript": "ENST00000861008.1",
"protein_id": "ENSP00000531067.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861008.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1061C>G",
"hgvs_p": "p.Thr354Ser",
"transcript": "ENST00000939534.1",
"protein_id": "ENSP00000609593.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 383,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939534.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1007C>G",
"hgvs_p": "p.Thr336Ser",
"transcript": "ENST00000939535.1",
"protein_id": "ENSP00000609594.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 365,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939535.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.971C>G",
"hgvs_p": "p.Thr324Ser",
"transcript": "ENST00000961257.1",
"protein_id": "ENSP00000631316.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 353,
"cds_start": 971,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961257.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.866C>G",
"hgvs_p": "p.Thr289Ser",
"transcript": "NM_001323603.2",
"protein_id": "NP_001310532.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 318,
"cds_start": 866,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323603.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.866C>G",
"hgvs_p": "p.Thr289Ser",
"transcript": "NM_001323604.2",
"protein_id": "NP_001310533.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 318,
"cds_start": 866,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323604.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.866C>G",
"hgvs_p": "p.Thr289Ser",
"transcript": "ENST00000861006.1",
"protein_id": "ENSP00000531065.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 318,
"cds_start": 866,
"cds_end": null,
"cds_length": 957,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861006.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.779C>G",
"hgvs_p": "p.Thr260Ser",
"transcript": "NM_001323602.2",
"protein_id": "NP_001310531.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 289,
"cds_start": 779,
"cds_end": null,
"cds_length": 870,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323602.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.779C>G",
"hgvs_p": "p.Thr260Ser",
"transcript": "ENST00000861005.1",
"protein_id": "ENSP00000531064.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 289,
"cds_start": 779,
"cds_end": null,
"cds_length": 870,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861005.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.779C>G",
"hgvs_p": "p.Thr260Ser",
"transcript": "ENST00000939537.1",
"protein_id": "ENSP00000609596.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 289,
"cds_start": 779,
"cds_end": null,
"cds_length": 870,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939537.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.779C>G",
"hgvs_p": "p.Thr260Ser",
"transcript": "ENST00000961260.1",
"protein_id": "ENSP00000631319.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 289,
"cds_start": 779,
"cds_end": null,
"cds_length": 870,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961260.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Ser",
"transcript": "ENST00000961258.1",
"protein_id": "ENSP00000631317.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 263,
"cds_start": 701,
"cds_end": null,
"cds_length": 792,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961258.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.659C>G",
"hgvs_p": "p.Thr220Ser",
"transcript": "ENST00000961259.1",
"protein_id": "ENSP00000631318.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 249,
"cds_start": 659,
"cds_end": null,
"cds_length": 750,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961259.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.395C>G",
"hgvs_p": "p.Thr132Ser",
"transcript": "ENST00000939536.1",
"protein_id": "ENSP00000609595.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 161,
"cds_start": 395,
"cds_end": null,
"cds_length": 486,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939536.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1172C>G",
"hgvs_p": "p.Thr391Ser",
"transcript": "XM_047440267.1",
"protein_id": "XP_047296223.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440267.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1172C>G",
"hgvs_p": "p.Thr391Ser",
"transcript": "XM_047440268.1",
"protein_id": "XP_047296224.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440268.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.866C>G",
"hgvs_p": "p.Thr289Ser",
"transcript": "XM_047440273.1",
"protein_id": "XP_047296229.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 318,
"cds_start": 866,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440273.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.866C>G",
"hgvs_p": "p.Thr289Ser",
"transcript": "XM_047440274.1",
"protein_id": "XP_047296230.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 318,
"cds_start": 866,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440274.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.779C>G",
"hgvs_p": "p.Thr260Ser",
"transcript": "XM_047440275.1",
"protein_id": "XP_047296231.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 289,
"cds_start": 779,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440275.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.614C>G",
"hgvs_p": "p.Thr205Ser",
"transcript": "XM_047440276.1",
"protein_id": "XP_047296232.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 234,
"cds_start": 614,
"cds_end": null,
"cds_length": 705,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 1829,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "c.1170+26997C>G",
"hgvs_p": null,
"transcript": "XM_047440269.1",
"protein_id": "XP_047296225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.1243C>G",
"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": 2302,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.1165C>G",
"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": 2222,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.1098C>G",
"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": 2155,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.1352C>G",
"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": 2409,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.1432C>G",
"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": 2489,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.1283+26997C>G",
"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": 1855,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"hgvs_c": "n.1283+26997C>G",
"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": 35426,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067463.1"
}
],
"gene_symbol": "TASP1",
"gene_hgnc_id": 15859,
"dbsnp": "rs2041230291",
"frequency_reference_population": 0.0000047905833,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479058,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1722232699394226,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.6267,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.733,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000670837777374145,
"dbscsnv_ada_prediction": "Benign",
"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",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1172C>G",
"hgvs_p": "p.Thr391Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}