← 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: X-153504635-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153504635&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153504635,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001711.6",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "NM_001711.6",
"protein_id": "NP_001702.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 2353,
"mane_select": "ENST00000331595.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001711.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000331595.9",
"protein_id": "ENSP00000327336.4",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 2353,
"mane_select": "NM_001711.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331595.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859737.1",
"protein_id": "ENSP00000529796.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 385,
"cds_start": 4,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859737.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859739.1",
"protein_id": "ENSP00000529798.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 385,
"cds_start": 4,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859739.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859733.1",
"protein_id": "ENSP00000529792.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 379,
"cds_start": 4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859733.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859723.1",
"protein_id": "ENSP00000529782.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859723.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859724.1",
"protein_id": "ENSP00000529783.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859724.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859725.1",
"protein_id": "ENSP00000529784.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859725.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859726.1",
"protein_id": "ENSP00000529785.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859726.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859727.1",
"protein_id": "ENSP00000529786.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859727.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859728.1",
"protein_id": "ENSP00000529787.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859728.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859729.1",
"protein_id": "ENSP00000529788.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859729.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859731.1",
"protein_id": "ENSP00000529790.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859731.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859734.1",
"protein_id": "ENSP00000529793.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 84,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859734.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859735.1",
"protein_id": "ENSP00000529794.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859735.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859736.1",
"protein_id": "ENSP00000529795.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859736.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859741.1",
"protein_id": "ENSP00000529800.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859741.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000971803.1",
"protein_id": "ENSP00000641862.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971803.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000971804.1",
"protein_id": "ENSP00000641863.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971804.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859730.1",
"protein_id": "ENSP00000529789.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 357,
"cds_start": 4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859730.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859738.1",
"protein_id": "ENSP00000529797.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 357,
"cds_start": 4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859738.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859740.1",
"protein_id": "ENSP00000529799.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 357,
"cds_start": 4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 71,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859740.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000859732.1",
"protein_id": "ENSP00000529791.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 331,
"cds_start": 4,
"cds_end": null,
"cds_length": 996,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859732.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "ENST00000431891.1",
"protein_id": "ENSP00000402525.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 237,
"cds_start": 4,
"cds_end": null,
"cds_length": 714,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431891.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg",
"transcript": "XM_017029724.3",
"protein_id": "XP_016885213.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 368,
"cds_start": 4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 19,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029724.3"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "n.148T>C",
"hgvs_p": null,
"transcript": "ENST00000472615.5",
"protein_id": null,
"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": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472615.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"hgvs_c": "n.146T>C",
"hgvs_p": null,
"transcript": "ENST00000480756.1",
"protein_id": null,
"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": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000480756.1"
}
],
"gene_symbol": "BGN",
"gene_hgnc_id": 1044,
"dbsnp": null,
"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": 0.049670666456222534,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.1176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.127,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001711.6",
"gene_symbol": "BGN",
"hgnc_id": 1044,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.4T>C",
"hgvs_p": "p.Trp2Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}