← 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: 16-67540141-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67540141&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67540141,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000042381.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "NM_024519.4",
"protein_id": "NP_078795.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 1219,
"cds_start": 503,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": "ENST00000042381.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "ENST00000042381.9",
"protein_id": "ENSP00000042381.4",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 1219,
"cds_start": 503,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": "NM_024519.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Pro188Leu",
"transcript": "NM_001193523.2",
"protein_id": "NP_001180452.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1239,
"cds_start": 563,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Pro188Leu",
"transcript": "ENST00000422602.8",
"protein_id": "ENSP00000400099.2",
"transcript_support_level": 2,
"aa_start": 188,
"aa_end": null,
"aa_length": 1239,
"cds_start": 563,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Pro188Leu",
"transcript": "NM_001410885.1",
"protein_id": "NP_001397814.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1238,
"cds_start": 563,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Pro188Leu",
"transcript": "ENST00000540839.7",
"protein_id": "ENSP00000443568.3",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 1238,
"cds_start": 563,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "NM_001193524.2",
"protein_id": "NP_001180453.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1233,
"cds_start": 545,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000428437.6",
"protein_id": "ENSP00000389456.2",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 1233,
"cds_start": 545,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Pro172Leu",
"transcript": "NM_001193522.2",
"protein_id": "NP_001180451.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1223,
"cds_start": 515,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Pro172Leu",
"transcript": "ENST00000379312.7",
"protein_id": "ENSP00000368614.3",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 1223,
"cds_start": 515,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "ENST00000566559.5",
"protein_id": "ENSP00000456893.1",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 626,
"cds_start": 503,
"cds_end": null,
"cds_length": 1882,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000569253.5",
"protein_id": "ENSP00000454376.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 588,
"cds_start": 392,
"cds_end": null,
"cds_length": 1768,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Pro192Leu",
"transcript": "XM_047434616.1",
"protein_id": "XP_047290572.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1252,
"cds_start": 575,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Pro192Leu",
"transcript": "XM_047434617.1",
"protein_id": "XP_047290573.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1252,
"cds_start": 575,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 5075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Pro192Leu",
"transcript": "XM_047434618.1",
"protein_id": "XP_047290574.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1251,
"cds_start": 575,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Pro188Leu",
"transcript": "XM_011523321.2",
"protein_id": "XP_011521623.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1248,
"cds_start": 563,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Pro188Leu",
"transcript": "XM_011523322.2",
"protein_id": "XP_011521624.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1248,
"cds_start": 563,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "XM_047434619.1",
"protein_id": "XP_047290575.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 1246,
"cds_start": 557,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Pro192Leu",
"transcript": "XM_047434620.1",
"protein_id": "XP_047290576.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1243,
"cds_start": 575,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "XM_011523324.4",
"protein_id": "XP_011521626.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1242,
"cds_start": 545,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Pro192Leu",
"transcript": "XM_047434621.1",
"protein_id": "XP_047290577.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1242,
"cds_start": 575,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Pro188Leu",
"transcript": "XM_047434622.1",
"protein_id": "XP_047290578.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1239,
"cds_start": 563,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "XM_047434624.1",
"protein_id": "XP_047290580.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 1237,
"cds_start": 557,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "XM_047434625.1",
"protein_id": "XP_047290581.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1232,
"cds_start": 545,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Pro172Leu",
"transcript": "XM_047434626.1",
"protein_id": "XP_047290582.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1232,
"cds_start": 515,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Pro172Leu",
"transcript": "XM_047434627.1",
"protein_id": "XP_047290583.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1232,
"cds_start": 515,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Pro172Leu",
"transcript": "XM_047434628.1",
"protein_id": "XP_047290584.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1232,
"cds_start": 515,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "XM_011523325.3",
"protein_id": "XP_011521627.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 1228,
"cds_start": 503,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Pro172Leu",
"transcript": "XM_047434629.1",
"protein_id": "XP_047290585.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1222,
"cds_start": 515,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 4101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "XM_047434630.1",
"protein_id": "XP_047290586.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 1218,
"cds_start": 503,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "n.267C>T",
"hgvs_p": null,
"transcript": "ENST00000561534.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "n.294C>T",
"hgvs_p": null,
"transcript": "ENST00000566522.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "n.17C>T",
"hgvs_p": null,
"transcript": "ENST00000566730.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "n.481C>T",
"hgvs_p": null,
"transcript": "ENST00000566815.5",
"protein_id": "ENSP00000457419.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "n.124C>T",
"hgvs_p": null,
"transcript": "ENST00000569474.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CTCF-DT",
"gene_hgnc_id": 55409,
"hgvs_c": "n.184-21756G>A",
"hgvs_p": null,
"transcript": "ENST00000748474.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.-213C>T",
"hgvs_p": null,
"transcript": "ENST00000569179.1",
"protein_id": "ENSP00000455200.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261396",
"gene_hgnc_id": null,
"hgvs_c": "n.-35G>A",
"hgvs_p": null,
"transcript": "ENST00000567122.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.*47C>T",
"hgvs_p": null,
"transcript": "ENST00000565176.5",
"protein_id": "ENSP00000455795.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"dbsnp": "rs201474523",
"frequency_reference_population": 0.00004274929,
"hom_count_reference_population": 0,
"allele_count_reference_population": 69,
"gnomad_exomes_af": 0.0000417273,
"gnomad_genomes_af": 0.0000525659,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43956127762794495,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.1519,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.106,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000042381.9",
"gene_symbol": "RIPOR1",
"hgnc_id": 25836,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000748474.1",
"gene_symbol": "CTCF-DT",
"hgnc_id": 55409,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.184-21756G>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000567122.1",
"gene_symbol": "ENSG00000261396",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-35G>A",
"hgvs_p": null
}
],
"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
}