← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 20-63661895-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63661895&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63661895,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001283009.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "NM_001283009.2",
"protein_id": "NP_001269938.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1300,
"cds_start": 347,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360203.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283009.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000360203.11",
"protein_id": "ENSP00000353332.5",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 1300,
"cds_start": 347,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001283009.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360203.11"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000508582.7",
"protein_id": "ENSP00000424307.2",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 1243,
"cds_start": 347,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508582.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000370018.7",
"protein_id": "ENSP00000359035.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 1219,
"cds_start": 347,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370018.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000356810.5",
"protein_id": "ENSP00000349265.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 355,
"cds_start": 347,
"cds_end": null,
"cds_length": 1069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356810.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1-TNFRSF6B",
"gene_hgnc_id": 44095,
"hgvs_c": "n.347A>G",
"hgvs_p": null,
"transcript": "ENST00000492259.6",
"protein_id": "ENSP00000457428.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000492259.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000962502.1",
"protein_id": "ENSP00000632561.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1329,
"cds_start": 347,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962502.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000962501.1",
"protein_id": "ENSP00000632560.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1311,
"cds_start": 347,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962501.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000935990.1",
"protein_id": "ENSP00000606049.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1306,
"cds_start": 347,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935990.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000935986.1",
"protein_id": "ENSP00000606045.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1305,
"cds_start": 347,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935986.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000962500.1",
"protein_id": "ENSP00000632559.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1305,
"cds_start": 347,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962500.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000897317.1",
"protein_id": "ENSP00000567376.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1300,
"cds_start": 347,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897317.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000935985.1",
"protein_id": "ENSP00000606044.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1300,
"cds_start": 347,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935985.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000935993.1",
"protein_id": "ENSP00000606052.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1300,
"cds_start": 347,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935993.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000935987.1",
"protein_id": "ENSP00000606046.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1295,
"cds_start": 347,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935987.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000935988.1",
"protein_id": "ENSP00000606047.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1295,
"cds_start": 347,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935988.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000935989.1",
"protein_id": "ENSP00000606048.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1286,
"cds_start": 347,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935989.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000935991.1",
"protein_id": "ENSP00000606050.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1286,
"cds_start": 347,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935991.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000935992.1",
"protein_id": "ENSP00000606051.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1281,
"cds_start": 347,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935992.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000897316.1",
"protein_id": "ENSP00000567375.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1267,
"cds_start": 347,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897316.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "NM_032957.5",
"protein_id": "NP_116575.3",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1243,
"cds_start": 347,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032957.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "ENST00000962503.1",
"protein_id": "ENSP00000632562.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1222,
"cds_start": 347,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962503.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg",
"transcript": "NM_016434.4",
"protein_id": "NP_057518.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 1219,
"cds_start": 347,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016434.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.-323A>G",
"hgvs_p": null,
"transcript": "NM_001283010.1",
"protein_id": "NP_001269939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": null,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.-323A>G",
"hgvs_p": null,
"transcript": "ENST00000318100.9",
"protein_id": "ENSP00000322287.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": null,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318100.9"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.21A>G",
"hgvs_p": null,
"transcript": "ENST00000425905.7",
"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": "pseudogene",
"feature": "ENST00000425905.7"
},
{
"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": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.347A>G",
"hgvs_p": null,
"transcript": "ENST00000482936.6",
"protein_id": "ENSP00000457868.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000482936.6"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.*123A>G",
"hgvs_p": null,
"transcript": "ENST00000684971.1",
"protein_id": "ENSP00000513449.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000684971.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.665A>G",
"hgvs_p": null,
"transcript": "ENST00000686756.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000686756.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.*123A>G",
"hgvs_p": null,
"transcript": "ENST00000687123.1",
"protein_id": "ENSP00000513450.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000687123.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.*123A>G",
"hgvs_p": null,
"transcript": "ENST00000692658.1",
"protein_id": "ENSP00000513448.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000692658.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.1074A>G",
"hgvs_p": null,
"transcript": "ENST00000692911.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000692911.1"
},
{
"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": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1-TNFRSF6B",
"gene_hgnc_id": 44095,
"hgvs_c": "n.1174A>G",
"hgvs_p": null,
"transcript": "NR_037882.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.*123A>G",
"hgvs_p": null,
"transcript": "ENST00000684971.1",
"protein_id": "ENSP00000513449.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000684971.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.*123A>G",
"hgvs_p": null,
"transcript": "ENST00000687123.1",
"protein_id": "ENSP00000513450.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000687123.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.*123A>G",
"hgvs_p": null,
"transcript": "ENST00000692658.1",
"protein_id": "ENSP00000513448.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000692658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.*38A>G",
"hgvs_p": null,
"transcript": "ENST00000488316.2",
"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": "pseudogene",
"feature": "ENST00000488316.2"
}
],
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"dbsnp": "rs746010778",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9578572511672974,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.837,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.86,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001283009.2",
"gene_symbol": "RTEL1",
"hgnc_id": 15888,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.347A>G",
"hgvs_p": "p.His116Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000492259.6",
"gene_symbol": "RTEL1-TNFRSF6B",
"hgnc_id": 44095,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.347A>G",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive 5,Dyskeratosis congenita",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Dyskeratosis congenita, autosomal recessive 5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}