← 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: 5-134167218-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134167218&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134167218,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_170679.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "NM_170679.3",
"protein_id": "NP_733779.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000353411.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170679.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000353411.11",
"protein_id": "ENSP00000231487.9",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170679.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353411.11"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272772",
"gene_hgnc_id": null,
"hgvs_c": "c.225T>C",
"hgvs_p": "p.Asp75Asp",
"transcript": "ENST00000519718.2",
"protein_id": "ENSP00000430774.2",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 197,
"cds_start": 225,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519718.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000522552.5",
"protein_id": "ENSP00000429472.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 160,
"cds_start": 123,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522552.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.192T>C",
"hgvs_p": "p.Asp64Asp",
"transcript": "ENST00000880998.1",
"protein_id": "ENSP00000551057.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 186,
"cds_start": 192,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880998.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.153T>C",
"hgvs_p": "p.Asp51Asp",
"transcript": "ENST00000968701.1",
"protein_id": "ENSP00000638760.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 173,
"cds_start": 153,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968701.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000517625.5",
"protein_id": "ENSP00000429961.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517625.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000521216.5",
"protein_id": "ENSP00000431067.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521216.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000522855.5",
"protein_id": "ENSP00000429686.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522855.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000880996.1",
"protein_id": "ENSP00000551055.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880996.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000880997.1",
"protein_id": "ENSP00000551056.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880997.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000881000.1",
"protein_id": "ENSP00000551059.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881000.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000934651.1",
"protein_id": "ENSP00000604710.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934651.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000934653.1",
"protein_id": "ENSP00000604712.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934653.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000934654.1",
"protein_id": "ENSP00000604713.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934654.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000968700.1",
"protein_id": "ENSP00000638759.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 123,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968700.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000934648.1",
"protein_id": "ENSP00000604707.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 161,
"cds_start": 123,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934648.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "NM_006930.4",
"protein_id": "NP_008861.2",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 160,
"cds_start": 123,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006930.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000934649.1",
"protein_id": "ENSP00000604708.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 160,
"cds_start": 123,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934649.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000328392.10",
"protein_id": "ENSP00000331708.6",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 157,
"cds_start": 123,
"cds_end": null,
"cds_length": 476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328392.10"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.102T>C",
"hgvs_p": "p.Asp34Asp",
"transcript": "ENST00000934652.1",
"protein_id": "ENSP00000604711.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 156,
"cds_start": 102,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934652.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000519321.5",
"protein_id": "ENSP00000429415.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 141,
"cds_start": 123,
"cds_end": null,
"cds_length": 427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519321.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000880999.1",
"protein_id": "ENSP00000551058.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 115,
"cds_start": 123,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880999.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp",
"transcript": "ENST00000520417.1",
"protein_id": "ENSP00000429996.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 101,
"cds_start": 123,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.98-6137T>C",
"hgvs_p": null,
"transcript": "ENST00000934650.1",
"protein_id": "ENSP00000604709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934650.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "n.*69T>C",
"hgvs_p": null,
"transcript": "ENST00000519054.5",
"protein_id": "ENSP00000430885.1",
"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": "ENST00000519054.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "n.*85T>C",
"hgvs_p": null,
"transcript": "ENST00000523966.5",
"protein_id": "ENSP00000429995.1",
"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": "ENST00000523966.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "n.*69T>C",
"hgvs_p": null,
"transcript": "ENST00000519054.5",
"protein_id": "ENSP00000430885.1",
"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": "ENST00000519054.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "n.*85T>C",
"hgvs_p": null,
"transcript": "ENST00000523966.5",
"protein_id": "ENSP00000429995.1",
"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": "ENST00000523966.5"
}
],
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"dbsnp": "rs1267596789",
"frequency_reference_population": 0.0000012499625,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.90641e-7,
"gnomad_genomes_af": 0.00000657384,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.094,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_170679.3",
"gene_symbol": "SKP1",
"hgnc_id": 10899,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Asp41Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000519718.2",
"gene_symbol": "ENSG00000272772",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.225T>C",
"hgvs_p": "p.Asp75Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}