← 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: 12-130437119-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=130437119&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 130437119,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000690449.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393629.1",
"protein_id": "NP_001380558.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1362,
"cds_start": 1829,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 5746,
"mane_select": "ENST00000690449.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "ENST00000690449.1",
"protein_id": "ENSP00000509157.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1362,
"cds_start": 1829,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 5746,
"mane_select": "NM_001393629.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1778C>A",
"hgvs_p": "p.Pro593Gln",
"transcript": "ENST00000261655.8",
"protein_id": "ENSP00000261655.4",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 1052,
"cds_start": 1778,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "ENST00000643940.1",
"protein_id": "ENSP00000495590.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1362,
"cds_start": 1829,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 5594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "ENST00000691977.1",
"protein_id": "ENSP00000510638.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1362,
"cds_start": 1829,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 5684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393614.1",
"protein_id": "NP_001380543.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 7358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393615.1",
"protein_id": "NP_001380544.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1305,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 7823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393616.1",
"protein_id": "NP_001380545.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1305,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 7785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393617.1",
"protein_id": "NP_001380546.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1305,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "ENST00000689851.1",
"protein_id": "ENSP00000510770.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1305,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001351226.2",
"protein_id": "NP_001338155.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001351227.2",
"protein_id": "NP_001338156.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 4939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001351228.2",
"protein_id": "NP_001338157.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393618.1",
"protein_id": "NP_001380547.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393619.1",
"protein_id": "NP_001380548.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 5056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "ENST00000690669.1",
"protein_id": "ENSP00000510530.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001351229.2",
"protein_id": "NP_001338158.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 4783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001351230.2",
"protein_id": "NP_001338159.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 6641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393620.1",
"protein_id": "NP_001380549.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 6679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393621.1",
"protein_id": "NP_001380550.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 6551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393622.1",
"protein_id": "NP_001380551.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 6578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393623.1",
"protein_id": "NP_001380552.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 6668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "ENST00000707118.1",
"protein_id": "ENSP00000516746.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001351231.2",
"protein_id": "NP_001338160.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1068,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 6676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393624.1",
"protein_id": "NP_001380553.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1068,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2259,
"cdna_end": null,
"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393625.1",
"protein_id": "NP_001380554.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 7158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393626.1",
"protein_id": "NP_001380555.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 7097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393627.1",
"protein_id": "NP_001380556.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 7196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1778C>A",
"hgvs_p": "p.Pro593Gln",
"transcript": "NM_015347.5",
"protein_id": "NP_056162.4",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1052,
"cds_start": 1778,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 6509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001393628.1",
"protein_id": "NP_001380557.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1013,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 6999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1850C>A",
"hgvs_p": "p.Pro617Gln",
"transcript": "ENST00000644209.1",
"protein_id": "ENSP00000496608.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 810,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "NM_001351232.2",
"protein_id": "NP_001338161.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 753,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "ENST00000688340.1",
"protein_id": "ENSP00000509541.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 753,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2543,
"cdna_end": null,
"cdna_length": 3724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1502C>A",
"hgvs_p": "p.Pro501Gln",
"transcript": "NM_001351233.2",
"protein_id": "NP_001338162.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 645,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.2192C>A",
"hgvs_p": "p.Pro731Gln",
"transcript": "XM_011538103.3",
"protein_id": "XP_011536405.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2192,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 5784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "XM_017019105.3",
"protein_id": "XP_016874594.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1362,
"cds_start": 1829,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 5784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "XM_047428628.1",
"protein_id": "XP_047284584.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1362,
"cds_start": 1829,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 5656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.2192C>A",
"hgvs_p": "p.Pro731Gln",
"transcript": "XM_011538105.4",
"protein_id": "XP_011536407.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1244,
"cds_start": 2192,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 5313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.2192C>A",
"hgvs_p": "p.Pro731Gln",
"transcript": "XM_011538106.4",
"protein_id": "XP_011536408.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2192,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.2192C>A",
"hgvs_p": "p.Pro731Gln",
"transcript": "XM_017019106.2",
"protein_id": "XP_016874595.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2192,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.2192C>A",
"hgvs_p": "p.Pro731Gln",
"transcript": "XM_047428629.1",
"protein_id": "XP_047284585.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2192,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 4908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln",
"transcript": "XM_047428630.1",
"protein_id": "XP_047284586.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1070,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.2192C>A",
"hgvs_p": "p.Pro731Gln",
"transcript": "XM_011538107.4",
"protein_id": "XP_011536409.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 875,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "c.2192C>A",
"hgvs_p": "p.Pro731Gln",
"transcript": "XM_011538108.4",
"protein_id": "XP_011536410.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 874,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "n.*2178C>A",
"hgvs_p": null,
"transcript": "ENST00000535703.6",
"protein_id": "ENSP00000440347.2",
"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": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "n.*1741C>A",
"hgvs_p": null,
"transcript": "ENST00000685265.1",
"protein_id": "ENSP00000508558.1",
"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": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "n.*2178C>A",
"hgvs_p": null,
"transcript": "ENST00000535703.6",
"protein_id": "ENSP00000440347.2",
"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": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"hgvs_c": "n.*1741C>A",
"hgvs_p": null,
"transcript": "ENST00000685265.1",
"protein_id": "ENSP00000508558.1",
"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": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RIMBP2",
"gene_hgnc_id": 30339,
"dbsnp": "rs2292664",
"frequency_reference_population": 6.983718e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.98372e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.329922616481781,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.0981,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.278,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000690449.1",
"gene_symbol": "RIMBP2",
"hgnc_id": 30339,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Pro610Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}