← 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: 4-86764643-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=86764643&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 86764643,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_080685.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4068T>C",
"hgvs_p": "p.Phe1356Phe",
"transcript": "NM_080683.3",
"protein_id": "NP_542414.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 2485,
"cds_start": 4068,
"cds_end": null,
"cds_length": 7458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000411767.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080683.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4068T>C",
"hgvs_p": "p.Phe1356Phe",
"transcript": "ENST00000411767.7",
"protein_id": "ENSP00000407249.2",
"transcript_support_level": 1,
"aa_start": 1356,
"aa_end": null,
"aa_length": 2485,
"cds_start": 4068,
"cds_end": null,
"cds_length": 7458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080683.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411767.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4011T>C",
"hgvs_p": "p.Phe1337Phe",
"transcript": "ENST00000427191.6",
"protein_id": "ENSP00000408368.2",
"transcript_support_level": 1,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2466,
"cds_start": 4011,
"cds_end": null,
"cds_length": 7401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427191.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3495T>C",
"hgvs_p": "p.Phe1165Phe",
"transcript": "ENST00000316707.10",
"protein_id": "ENSP00000322675.6",
"transcript_support_level": 1,
"aa_start": 1165,
"aa_end": null,
"aa_length": 2294,
"cds_start": 3495,
"cds_end": null,
"cds_length": 6885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316707.10"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4068T>C",
"hgvs_p": "p.Phe1356Phe",
"transcript": "ENST00000940454.1",
"protein_id": "ENSP00000610513.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 2502,
"cds_start": 4068,
"cds_end": null,
"cds_length": 7509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940454.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4068T>C",
"hgvs_p": "p.Phe1356Phe",
"transcript": "NM_080685.3",
"protein_id": "NP_542416.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 2490,
"cds_start": 4068,
"cds_end": null,
"cds_length": 7473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080685.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4068T>C",
"hgvs_p": "p.Phe1356Phe",
"transcript": "ENST00000436978.5",
"protein_id": "ENSP00000394794.1",
"transcript_support_level": 5,
"aa_start": 1356,
"aa_end": null,
"aa_length": 2490,
"cds_start": 4068,
"cds_end": null,
"cds_length": 7473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436978.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4068T>C",
"hgvs_p": "p.Phe1356Phe",
"transcript": "ENST00000511467.1",
"protein_id": "ENSP00000426626.1",
"transcript_support_level": 2,
"aa_start": 1356,
"aa_end": null,
"aa_length": 2490,
"cds_start": 4068,
"cds_end": null,
"cds_length": 7473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511467.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4011T>C",
"hgvs_p": "p.Phe1337Phe",
"transcript": "ENST00000940452.1",
"protein_id": "ENSP00000610511.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2488,
"cds_start": 4011,
"cds_end": null,
"cds_length": 7467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940452.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4011T>C",
"hgvs_p": "p.Phe1337Phe",
"transcript": "ENST00000860771.1",
"protein_id": "ENSP00000530830.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2483,
"cds_start": 4011,
"cds_end": null,
"cds_length": 7452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860771.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4011T>C",
"hgvs_p": "p.Phe1337Phe",
"transcript": "ENST00000940451.1",
"protein_id": "ENSP00000610510.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2471,
"cds_start": 4011,
"cds_end": null,
"cds_length": 7416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940451.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4008T>C",
"hgvs_p": "p.Phe1336Phe",
"transcript": "ENST00000940456.1",
"protein_id": "ENSP00000610515.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 2470,
"cds_start": 4008,
"cds_end": null,
"cds_length": 7413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940456.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4011T>C",
"hgvs_p": "p.Phe1337Phe",
"transcript": "NM_006264.3",
"protein_id": "NP_006255.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2466,
"cds_start": 4011,
"cds_end": null,
"cds_length": 7401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006264.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3990T>C",
"hgvs_p": "p.Phe1330Phe",
"transcript": "ENST00000940457.1",
"protein_id": "ENSP00000610516.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 2459,
"cds_start": 3990,
"cds_end": null,
"cds_length": 7380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940457.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3816T>C",
"hgvs_p": "p.Phe1272Phe",
"transcript": "ENST00000940459.1",
"protein_id": "ENSP00000610518.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 2401,
"cds_start": 3816,
"cds_end": null,
"cds_length": 7206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940459.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3507T>C",
"hgvs_p": "p.Phe1169Phe",
"transcript": "ENST00000940458.1",
"protein_id": "ENSP00000610517.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 2320,
"cds_start": 3507,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940458.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3507T>C",
"hgvs_p": "p.Phe1169Phe",
"transcript": "ENST00000953522.1",
"protein_id": "ENSP00000623581.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 2315,
"cds_start": 3507,
"cds_end": null,
"cds_length": 6948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953522.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3552T>C",
"hgvs_p": "p.Phe1184Phe",
"transcript": "ENST00000940455.1",
"protein_id": "ENSP00000610514.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 2313,
"cds_start": 3552,
"cds_end": null,
"cds_length": 6942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940455.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3495T>C",
"hgvs_p": "p.Phe1165Phe",
"transcript": "ENST00000860769.1",
"protein_id": "ENSP00000530828.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 2299,
"cds_start": 3495,
"cds_end": null,
"cds_length": 6900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860769.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3507T>C",
"hgvs_p": "p.Phe1169Phe",
"transcript": "ENST00000860770.1",
"protein_id": "ENSP00000530829.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 2298,
"cds_start": 3507,
"cds_end": null,
"cds_length": 6897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860770.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3495T>C",
"hgvs_p": "p.Phe1165Phe",
"transcript": "NM_080684.3",
"protein_id": "NP_542415.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 2294,
"cds_start": 3495,
"cds_end": null,
"cds_length": 6885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080684.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3450T>C",
"hgvs_p": "p.Phe1150Phe",
"transcript": "ENST00000860772.1",
"protein_id": "ENSP00000530831.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 2279,
"cds_start": 3450,
"cds_end": null,
"cds_length": 6840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860772.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3429T>C",
"hgvs_p": "p.Phe1143Phe",
"transcript": "ENST00000953523.1",
"protein_id": "ENSP00000623582.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 2272,
"cds_start": 3429,
"cds_end": null,
"cds_length": 6819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953523.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3495T>C",
"hgvs_p": "p.Phe1165Phe",
"transcript": "ENST00000940453.1",
"protein_id": "ENSP00000610512.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 2261,
"cds_start": 3495,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940453.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4068T>C",
"hgvs_p": "p.Phe1356Phe",
"transcript": "XM_011532165.3",
"protein_id": "XP_011530467.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 2507,
"cds_start": 4068,
"cds_end": null,
"cds_length": 7524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532165.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4068T>C",
"hgvs_p": "p.Phe1356Phe",
"transcript": "XM_017008511.3",
"protein_id": "XP_016864000.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 2502,
"cds_start": 4068,
"cds_end": null,
"cds_length": 7509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008511.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4011T>C",
"hgvs_p": "p.Phe1337Phe",
"transcript": "XM_017008512.3",
"protein_id": "XP_016864001.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2488,
"cds_start": 4011,
"cds_end": null,
"cds_length": 7467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008512.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4011T>C",
"hgvs_p": "p.Phe1337Phe",
"transcript": "XM_017008513.3",
"protein_id": "XP_016864002.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2483,
"cds_start": 4011,
"cds_end": null,
"cds_length": 7452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008513.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.4011T>C",
"hgvs_p": "p.Phe1337Phe",
"transcript": "XM_017008514.3",
"protein_id": "XP_016864003.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2471,
"cds_start": 4011,
"cds_end": null,
"cds_length": 7416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008514.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3753T>C",
"hgvs_p": "p.Phe1251Phe",
"transcript": "XM_047416036.1",
"protein_id": "XP_047271992.1",
"transcript_support_level": null,
"aa_start": 1251,
"aa_end": null,
"aa_length": 2402,
"cds_start": 3753,
"cds_end": null,
"cds_length": 7209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416036.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3507T>C",
"hgvs_p": "p.Phe1169Phe",
"transcript": "XM_017008515.3",
"protein_id": "XP_016864004.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 2320,
"cds_start": 3507,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008515.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3495T>C",
"hgvs_p": "p.Phe1165Phe",
"transcript": "XM_017008516.3",
"protein_id": "XP_016864005.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 2316,
"cds_start": 3495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008516.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3507T>C",
"hgvs_p": "p.Phe1169Phe",
"transcript": "XM_047416037.1",
"protein_id": "XP_047271993.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 2315,
"cds_start": 3507,
"cds_end": null,
"cds_length": 6948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416037.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3495T>C",
"hgvs_p": "p.Phe1165Phe",
"transcript": "XM_047416038.1",
"protein_id": "XP_047271994.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 2311,
"cds_start": 3495,
"cds_end": null,
"cds_length": 6936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416038.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3507T>C",
"hgvs_p": "p.Phe1169Phe",
"transcript": "XM_047416039.1",
"protein_id": "XP_047271995.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 2303,
"cds_start": 3507,
"cds_end": null,
"cds_length": 6912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416039.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3450T>C",
"hgvs_p": "p.Phe1150Phe",
"transcript": "XM_047416040.1",
"protein_id": "XP_047271996.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 2301,
"cds_start": 3450,
"cds_end": null,
"cds_length": 6906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416040.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3495T>C",
"hgvs_p": "p.Phe1165Phe",
"transcript": "XM_047416041.1",
"protein_id": "XP_047271997.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 2299,
"cds_start": 3495,
"cds_end": null,
"cds_length": 6900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416041.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3507T>C",
"hgvs_p": "p.Phe1169Phe",
"transcript": "XM_047416042.1",
"protein_id": "XP_047271998.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 2298,
"cds_start": 3507,
"cds_end": null,
"cds_length": 6897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416042.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3450T>C",
"hgvs_p": "p.Phe1150Phe",
"transcript": "XM_047416043.1",
"protein_id": "XP_047271999.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 2296,
"cds_start": 3450,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416043.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3450T>C",
"hgvs_p": "p.Phe1150Phe",
"transcript": "XM_047416044.1",
"protein_id": "XP_047272000.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 2284,
"cds_start": 3450,
"cds_end": null,
"cds_length": 6855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416044.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.3450T>C",
"hgvs_p": "p.Phe1150Phe",
"transcript": "XM_047416045.1",
"protein_id": "XP_047272001.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 2279,
"cds_start": 3450,
"cds_end": null,
"cds_length": 6840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416045.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.2934T>C",
"hgvs_p": "p.Phe978Phe",
"transcript": "XM_047416046.1",
"protein_id": "XP_047272002.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 2124,
"cds_start": 2934,
"cds_end": null,
"cds_length": 6375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416046.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.2934T>C",
"hgvs_p": "p.Phe978Phe",
"transcript": "XM_047416047.1",
"protein_id": "XP_047272003.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 2112,
"cds_start": 2934,
"cds_end": null,
"cds_length": 6339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416047.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.2934T>C",
"hgvs_p": "p.Phe978Phe",
"transcript": "XM_047416048.1",
"protein_id": "XP_047272004.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 2107,
"cds_start": 2934,
"cds_end": null,
"cds_length": 6324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "n.233T>C",
"hgvs_p": null,
"transcript": "ENST00000511105.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000511105.1"
}
],
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"dbsnp": "rs10033029",
"frequency_reference_population": 0.000002096773,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000209677,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.645,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_080685.3",
"gene_symbol": "PTPN13",
"hgnc_id": 9646,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4068T>C",
"hgvs_p": "p.Phe1356Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}