← 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: 1-155325611-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155325611&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155325611,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000490373.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.-321C>T",
"hgvs_p": null,
"transcript": "ENST00000490373.5",
"protein_id": "ENSP00000484026.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.-255C>T",
"hgvs_p": null,
"transcript": "ENST00000471876.5",
"protein_id": "ENSP00000482409.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471876.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "NM_001105203.2",
"protein_id": "NP_001098673.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 902,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368352.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105203.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "ENST00000368352.10",
"protein_id": "ENSP00000357336.5",
"transcript_support_level": 2,
"aa_start": 585,
"aa_end": null,
"aa_length": 902,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105203.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368352.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"transcript": "ENST00000368347.8",
"protein_id": "ENSP00000357331.4",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 492,
"cds_start": 523,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368347.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000292254.8",
"protein_id": "ENSP00000292254.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 433,
"cds_start": 346,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292254.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000368349.8",
"protein_id": "ENSP00000357333.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 433,
"cds_start": 346,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368349.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.-321C>T",
"hgvs_p": null,
"transcript": "ENST00000490373.5",
"protein_id": "ENSP00000484026.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.-255C>T",
"hgvs_p": null,
"transcript": "ENST00000471876.5",
"protein_id": "ENSP00000482409.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471876.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722Cys",
"transcript": "ENST00000696599.1",
"protein_id": "ENSP00000512744.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2164,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696599.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722Cys",
"transcript": "ENST00000878375.1",
"protein_id": "ENSP00000548434.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 997,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878375.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "ENST00000878373.1",
"protein_id": "ENSP00000548432.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 902,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878373.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "ENST00000878374.1",
"protein_id": "ENSP00000548433.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 902,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878374.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "ENST00000925571.1",
"protein_id": "ENSP00000595630.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 902,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925571.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "ENST00000955292.1",
"protein_id": "ENSP00000625351.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 902,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955292.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "ENST00000878376.1",
"protein_id": "ENSP00000548435.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 860,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878376.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "ENST00000878377.1",
"protein_id": "ENSP00000548436.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 860,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878377.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "NM_001105204.2",
"protein_id": "NP_001098674.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 796,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105204.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "ENST00000368354.7",
"protein_id": "ENSP00000357338.3",
"transcript_support_level": 2,
"aa_start": 585,
"aa_end": null,
"aa_length": 796,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368354.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"transcript": "NM_001105205.1",
"protein_id": "NP_001098675.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 492,
"cds_start": 523,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105205.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "NM_001278230.2",
"protein_id": "NP_001265159.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 433,
"cds_start": 346,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278230.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "NM_014328.4",
"protein_id": "NP_055143.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 433,
"cds_start": 346,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014328.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110Cys",
"transcript": "NM_001278228.1",
"protein_id": "NP_001265157.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 427,
"cds_start": 328,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278228.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Cys",
"transcript": "NM_001278227.1",
"protein_id": "NP_001265156.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 400,
"cds_start": 247,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278227.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "NM_001278229.1",
"protein_id": "NP_001265158.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 327,
"cds_start": 346,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278229.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000479924.5",
"protein_id": "ENSP00000480831.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 270,
"cds_start": 346,
"cds_end": null,
"cds_length": 815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479924.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000489860.5",
"protein_id": "ENSP00000479495.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 264,
"cds_start": 346,
"cds_end": null,
"cds_length": 797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489860.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15Cys",
"transcript": "ENST00000485924.2",
"protein_id": "ENSP00000481669.1",
"transcript_support_level": 3,
"aa_start": 15,
"aa_end": null,
"aa_length": 223,
"cds_start": 43,
"cds_end": null,
"cds_length": 674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485924.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722Cys",
"transcript": "XM_006711254.3",
"protein_id": "XP_006711317.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2164,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711254.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722Cys",
"transcript": "XM_017000891.2",
"protein_id": "XP_016856380.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2164,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000891.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722Cys",
"transcript": "XM_006711256.3",
"protein_id": "XP_006711319.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 933,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711256.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585Cys",
"transcript": "XM_047416644.1",
"protein_id": "XP_047272600.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 902,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416644.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "XM_006711257.2",
"protein_id": "XP_006711320.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 433,
"cds_start": 346,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711257.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"transcript": "XM_047416653.1",
"protein_id": "XP_047272609.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 386,
"cds_start": 523,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416653.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.637C>T",
"hgvs_p": null,
"transcript": "ENST00000462780.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000462780.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.652C>T",
"hgvs_p": null,
"transcript": "ENST00000467820.5",
"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": "ENST00000467820.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.312C>T",
"hgvs_p": null,
"transcript": "ENST00000468764.5",
"protein_id": "ENSP00000482109.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000468764.5"
},
{
"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": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.369C>T",
"hgvs_p": null,
"transcript": "ENST00000473331.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000473331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.725C>T",
"hgvs_p": null,
"transcript": "ENST00000492536.5",
"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": "ENST00000492536.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000497930.6",
"protein_id": "ENSP00000479858.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000497930.6"
},
{
"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": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.600C>T",
"hgvs_p": null,
"transcript": "NR_103478.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_103478.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000497930.6",
"protein_id": "ENSP00000479858.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000497930.6"
}
],
"gene_symbol": "RUSC1",
"gene_hgnc_id": 17153,
"dbsnp": "rs1651290708",
"frequency_reference_population": 0.0000020541052,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205411,
"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": 0.34845417737960815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.0994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.714,
"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": 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": "ENST00000490373.5",
"gene_symbol": "RUSC1",
"hgnc_id": 17153,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-321C>T",
"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
}