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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: 2-30158740-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=30158740&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 30158740,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016061.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "NM_016061.3",
"protein_id": "NP_057145.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261353.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016061.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000261353.9",
"protein_id": "ENSP00000261353.4",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016061.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261353.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000402708.5",
"protein_id": "ENSP00000385278.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402708.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "n.537C>T",
"hgvs_p": null,
"transcript": "ENST00000495673.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000495673.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "NM_001127399.2",
"protein_id": "NP_001120871.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127399.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "NM_001127400.2",
"protein_id": "NP_001120872.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127400.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "NM_001127401.2",
"protein_id": "NP_001120873.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127401.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000379519.7",
"protein_id": "ENSP00000368834.3",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379519.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000379520.8",
"protein_id": "ENSP00000368835.3",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379520.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000402003.7",
"protein_id": "ENSP00000383974.3",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402003.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871629.1",
"protein_id": "ENSP00000541688.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871629.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871630.1",
"protein_id": "ENSP00000541689.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871630.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871631.1",
"protein_id": "ENSP00000541690.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871631.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871632.1",
"protein_id": "ENSP00000541691.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871632.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871633.1",
"protein_id": "ENSP00000541692.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871633.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871634.1",
"protein_id": "ENSP00000541693.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871634.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871635.1",
"protein_id": "ENSP00000541694.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871635.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871636.1",
"protein_id": "ENSP00000541695.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871636.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871637.1",
"protein_id": "ENSP00000541696.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871637.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871638.1",
"protein_id": "ENSP00000541697.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871638.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871639.1",
"protein_id": "ENSP00000541698.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871639.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000871640.1",
"protein_id": "ENSP00000541699.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871640.1"
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"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
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"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "XM_047444742.1",
"protein_id": "XP_047300698.1",
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"aa_start": 88,
"aa_end": null,
"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444742.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
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"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "XM_047444743.1",
"protein_id": "XP_047300699.1",
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"aa_start": 88,
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"aa_length": 121,
"cds_start": 263,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444743.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
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"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "XM_047444744.1",
"protein_id": "XP_047300700.1",
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"aa_start": 88,
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"aa_length": 121,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444744.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "n.427C>T",
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"transcript": "ENST00000470120.5",
"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": "pseudogene",
"feature": "ENST00000470120.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"hgvs_c": "n.780C>T",
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"transcript": "ENST00000492439.1",
"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": "ENST00000492439.1"
}
],
"gene_symbol": "YPEL5",
"gene_hgnc_id": 18329,
"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": 0.42246881127357483,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.366,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5746,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.695,
"phylop100way_prediction": "Pathogenic",
"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": "NM_016061.3",
"gene_symbol": "YPEL5",
"hgnc_id": 18329,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile"
}
],
"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
}