← 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: 17-40140772-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40140772&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40140772,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007359.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "NM_007359.5",
"protein_id": "NP_031385.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264645.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007359.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000264645.12",
"protein_id": "ENSP00000264645.6",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007359.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264645.12"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "n.455C>G",
"hgvs_p": null,
"transcript": "ENST00000418132.7",
"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": "retained_intron",
"feature": "ENST00000418132.7"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000971362.1",
"protein_id": "ENSP00000641421.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 708,
"cds_start": 224,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971362.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000971363.1",
"protein_id": "ENSP00000641422.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 708,
"cds_start": 224,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971363.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853392.1",
"protein_id": "ENSP00000523451.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853392.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853393.1",
"protein_id": "ENSP00000523452.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853393.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853396.1",
"protein_id": "ENSP00000523455.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853396.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853405.1",
"protein_id": "ENSP00000523464.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853405.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853406.1",
"protein_id": "ENSP00000523465.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853406.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000971365.1",
"protein_id": "ENSP00000641424.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971365.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853398.1",
"protein_id": "ENSP00000523457.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 702,
"cds_start": 224,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853398.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853400.1",
"protein_id": "ENSP00000523459.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 702,
"cds_start": 224,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853400.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853404.1",
"protein_id": "ENSP00000523463.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 702,
"cds_start": 224,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853404.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000971364.1",
"protein_id": "ENSP00000641423.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 701,
"cds_start": 224,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971364.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853397.1",
"protein_id": "ENSP00000523456.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 689,
"cds_start": 224,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853397.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853403.1",
"protein_id": "ENSP00000523462.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 689,
"cds_start": 224,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853403.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000971367.1",
"protein_id": "ENSP00000641426.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 689,
"cds_start": 224,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971367.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853402.1",
"protein_id": "ENSP00000523461.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 683,
"cds_start": 224,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853402.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000932300.1",
"protein_id": "ENSP00000602359.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 683,
"cds_start": 224,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932300.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853401.1",
"protein_id": "ENSP00000523460.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 670,
"cds_start": 224,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853401.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000850591.1",
"protein_id": "ENSP00000520878.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 661,
"cds_start": 224,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850591.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853394.1",
"protein_id": "ENSP00000523453.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 661,
"cds_start": 224,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853394.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853395.1",
"protein_id": "ENSP00000523454.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 661,
"cds_start": 224,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853395.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000971366.1",
"protein_id": "ENSP00000641425.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 661,
"cds_start": 224,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971366.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000932299.1",
"protein_id": "ENSP00000602358.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 647,
"cds_start": 224,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932299.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000932298.1",
"protein_id": "ENSP00000602357.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 628,
"cds_start": 224,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932298.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "ENST00000853399.1",
"protein_id": "ENSP00000523458.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 285,
"cds_start": 224,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853399.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "XM_005257163.3",
"protein_id": "XP_005257220.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 703,
"cds_start": 224,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257163.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp",
"transcript": "XM_047435623.1",
"protein_id": "XP_047291579.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 534,
"cds_start": 224,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435623.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.-742C>G",
"hgvs_p": null,
"transcript": "XM_047435624.1",
"protein_id": "XP_047291580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435624.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "n.236C>G",
"hgvs_p": null,
"transcript": "ENST00000581849.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000581849.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "n.229C>G",
"hgvs_p": null,
"transcript": "ENST00000583649.1",
"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": "retained_intron",
"feature": "ENST00000583649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"hgvs_c": "c.-414C>G",
"hgvs_p": null,
"transcript": "ENST00000584997.1",
"protein_id": "ENSP00000467654.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310351",
"gene_hgnc_id": null,
"hgvs_c": "n.-9G>C",
"hgvs_p": null,
"transcript": "ENST00000849241.1",
"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": "ENST00000849241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310351",
"gene_hgnc_id": null,
"hgvs_c": "n.-21G>C",
"hgvs_p": null,
"transcript": "ENST00000849242.1",
"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": "ENST00000849242.1"
}
],
"gene_symbol": "CASC3",
"gene_hgnc_id": 17040,
"dbsnp": "rs1315065108",
"frequency_reference_population": 0.0000058388705,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000583887,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6005969047546387,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.912,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.956,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_007359.5",
"gene_symbol": "CASC3",
"hgnc_id": 17040,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Ser75Trp"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000849241.1",
"gene_symbol": "ENSG00000310351",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-9G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}