← 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: 8-144393988-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144393988&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144393988,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013291.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3910G>T",
"hgvs_p": "p.Val1304Leu",
"transcript": "NM_013291.3",
"protein_id": "NP_037423.2",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1443,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616140.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013291.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3910G>T",
"hgvs_p": "p.Val1304Leu",
"transcript": "ENST00000616140.2",
"protein_id": "ENSP00000484669.1",
"transcript_support_level": 1,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1443,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013291.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616140.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3910G>T",
"hgvs_p": "p.Val1304Leu",
"transcript": "ENST00000620219.4",
"protein_id": "ENSP00000478145.1",
"transcript_support_level": 1,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1443,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620219.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3934G>T",
"hgvs_p": "p.Val1312Leu",
"transcript": "ENST00000886816.1",
"protein_id": "ENSP00000556875.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886816.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3907G>T",
"hgvs_p": "p.Val1303Leu",
"transcript": "ENST00000886809.1",
"protein_id": "ENSP00000556868.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3907,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886809.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3907G>T",
"hgvs_p": "p.Val1303Leu",
"transcript": "ENST00000886811.1",
"protein_id": "ENSP00000556870.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3907,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886811.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3907G>T",
"hgvs_p": "p.Val1303Leu",
"transcript": "ENST00000886813.1",
"protein_id": "ENSP00000556872.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3907,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886813.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3907G>T",
"hgvs_p": "p.Val1303Leu",
"transcript": "ENST00000913997.1",
"protein_id": "ENSP00000584056.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3907,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913997.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3907G>T",
"hgvs_p": "p.Val1303Leu",
"transcript": "ENST00000913998.1",
"protein_id": "ENSP00000584057.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3907,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913998.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3904G>T",
"hgvs_p": "p.Val1302Leu",
"transcript": "ENST00000886814.1",
"protein_id": "ENSP00000556873.1",
"transcript_support_level": null,
"aa_start": 1302,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3904,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886814.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3901G>T",
"hgvs_p": "p.Val1301Leu",
"transcript": "ENST00000886810.1",
"protein_id": "ENSP00000556869.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3901,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886810.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3901G>T",
"hgvs_p": "p.Val1301Leu",
"transcript": "ENST00000886815.1",
"protein_id": "ENSP00000556874.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3901,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886815.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3901G>T",
"hgvs_p": "p.Val1301Leu",
"transcript": "ENST00000913996.1",
"protein_id": "ENSP00000584055.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3901,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913996.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3895G>T",
"hgvs_p": "p.Val1299Leu",
"transcript": "ENST00000886812.1",
"protein_id": "ENSP00000556871.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3895,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886812.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3895G>T",
"hgvs_p": "p.Val1299Leu",
"transcript": "ENST00000886817.1",
"protein_id": "ENSP00000556876.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3895,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886817.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3895G>T",
"hgvs_p": "p.Val1299Leu",
"transcript": "ENST00000913994.1",
"protein_id": "ENSP00000584053.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3895,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913994.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3892G>T",
"hgvs_p": "p.Val1298Leu",
"transcript": "ENST00000886818.1",
"protein_id": "ENSP00000556877.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886818.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3886G>T",
"hgvs_p": "p.Val1296Leu",
"transcript": "ENST00000886819.1",
"protein_id": "ENSP00000556878.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3886,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886819.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3820G>T",
"hgvs_p": "p.Val1274Leu",
"transcript": "ENST00000913993.1",
"protein_id": "ENSP00000584052.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1413,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913993.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.193G>T",
"hgvs_p": "p.Val65Leu",
"transcript": "ENST00000531727.5",
"protein_id": "ENSP00000483775.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 204,
"cds_start": 193,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531727.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.400G>T",
"hgvs_p": "p.Val134Leu",
"transcript": "ENST00000532935.5",
"protein_id": "ENSP00000478161.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 167,
"cds_start": 400,
"cds_end": null,
"cds_length": 505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532935.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3901G>T",
"hgvs_p": "p.Val1301Leu",
"transcript": "XM_006716548.3",
"protein_id": "XP_006716611.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3901,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716548.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3676G>T",
"hgvs_p": "p.Val1226Leu",
"transcript": "XM_047421732.1",
"protein_id": "XP_047277688.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421732.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3676G>T",
"hgvs_p": "p.Val1226Leu",
"transcript": "XM_047421733.1",
"protein_id": "XP_047277689.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421733.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3676G>T",
"hgvs_p": "p.Val1226Leu",
"transcript": "XM_047421734.1",
"protein_id": "XP_047277690.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421734.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3676G>T",
"hgvs_p": "p.Val1226Leu",
"transcript": "XM_047421735.1",
"protein_id": "XP_047277691.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421735.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.1936G>T",
"hgvs_p": "p.Val646Leu",
"transcript": "XM_047421736.1",
"protein_id": "XP_047277692.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 785,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421736.1"
},
{
"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": 36,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3823+125G>T",
"hgvs_p": null,
"transcript": "ENST00000913995.1",
"protein_id": "ENSP00000584054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1379,
"cds_start": null,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913995.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "n.494G>T",
"hgvs_p": null,
"transcript": "ENST00000526271.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000526271.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "n.278G>T",
"hgvs_p": null,
"transcript": "ENST00000531480.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531480.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "n.250G>T",
"hgvs_p": null,
"transcript": "ENST00000532725.1",
"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": "ENST00000532725.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR939",
"gene_hgnc_id": 33682,
"hgvs_c": "n.*161G>T",
"hgvs_p": null,
"transcript": "ENST00000401314.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "miRNA",
"feature": "ENST00000401314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR939",
"gene_hgnc_id": 33682,
"hgvs_c": "n.*161G>T",
"hgvs_p": null,
"transcript": "NR_030635.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_030635.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR939",
"gene_hgnc_id": 33682,
"hgvs_c": "n.*173G>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_1563",
"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": "miRNA",
"feature": "unassigned_transcript_1563"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR939",
"gene_hgnc_id": 33682,
"hgvs_c": "n.*205G>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_1564",
"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": "miRNA",
"feature": "unassigned_transcript_1564"
}
],
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"dbsnp": "rs782548508",
"frequency_reference_population": 0.000013016169,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000116345,
"gnomad_genomes_af": 0.0000262798,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29383140802383423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.2472,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.906,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "PP2,BP4,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_013291.3",
"gene_symbol": "CPSF1",
"hgnc_id": 2324,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3910G>T",
"hgvs_p": "p.Val1304Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_030635.1",
"gene_symbol": "MIR939",
"hgnc_id": 33682,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*161G>T",
"hgvs_p": null
}
],
"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
}