← 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: 7-99454111-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99454111&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99454111,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006693.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Pro239Gln",
"transcript": "NM_006693.4",
"protein_id": "NP_006684.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 269,
"cds_start": 716,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292476.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006693.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Pro239Gln",
"transcript": "ENST00000292476.10",
"protein_id": "ENSP00000292476.5",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 269,
"cds_start": 716,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006693.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292476.10"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"transcript": "ENST00000436336.6",
"protein_id": "ENSP00000395311.2",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 244,
"cds_start": 641,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436336.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP5MF-PTCD1",
"gene_hgnc_id": 38844,
"hgvs_c": "c.121+5975G>T",
"hgvs_p": null,
"transcript": "ENST00000413834.5",
"protein_id": "ENSP00000400168.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413834.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Pro299Gln",
"transcript": "ENST00000967756.1",
"protein_id": "ENSP00000637815.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 329,
"cds_start": 896,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967756.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Pro239Gln",
"transcript": "ENST00000887794.1",
"protein_id": "ENSP00000557852.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 299,
"cds_start": 716,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887794.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Pro239Gln",
"transcript": "ENST00000967757.1",
"protein_id": "ENSP00000637816.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 298,
"cds_start": 716,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967757.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Pro239Gln",
"transcript": "ENST00000967755.1",
"protein_id": "ENSP00000637814.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 277,
"cds_start": 716,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967755.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.638C>A",
"hgvs_p": "p.Pro213Gln",
"transcript": "ENST00000967758.1",
"protein_id": "ENSP00000637817.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 273,
"cds_start": 638,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967758.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.638C>A",
"hgvs_p": "p.Pro213Gln",
"transcript": "ENST00000887790.1",
"protein_id": "ENSP00000557849.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 272,
"cds_start": 638,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887790.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.547C>A",
"hgvs_p": "p.His183Asn",
"transcript": "NM_001318161.2",
"protein_id": "NP_001305090.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 262,
"cds_start": 547,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318161.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.671C>A",
"hgvs_p": "p.Pro224Gln",
"transcript": "ENST00000926771.1",
"protein_id": "ENSP00000596830.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 254,
"cds_start": 671,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926771.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"transcript": "ENST00000926770.1",
"protein_id": "ENSP00000596829.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 252,
"cds_start": 641,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926770.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.638C>A",
"hgvs_p": "p.Pro213Gln",
"transcript": "ENST00000887791.1",
"protein_id": "ENSP00000557850.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 251,
"cds_start": 638,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887791.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"transcript": "NM_001081559.3",
"protein_id": "NP_001075028.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 244,
"cds_start": 641,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081559.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.638C>A",
"hgvs_p": "p.Pro213Gln",
"transcript": "NM_001318160.2",
"protein_id": "NP_001305089.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 243,
"cds_start": 638,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318160.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.638C>A",
"hgvs_p": "p.Pro213Gln",
"transcript": "ENST00000887788.1",
"protein_id": "ENSP00000557847.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 243,
"cds_start": 638,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887788.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.448C>A",
"hgvs_p": "p.His150Asn",
"transcript": "ENST00000452047.1",
"protein_id": "ENSP00000392584.1",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 228,
"cds_start": 448,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452047.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.563C>A",
"hgvs_p": "p.Pro188Gln",
"transcript": "ENST00000887795.1",
"protein_id": "ENSP00000557854.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 218,
"cds_start": 563,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887795.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Pro182Gln",
"transcript": "ENST00000967753.1",
"protein_id": "ENSP00000637812.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 212,
"cds_start": 545,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967753.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.542C>A",
"hgvs_p": "p.Pro181Gln",
"transcript": "ENST00000451876.5",
"protein_id": "ENSP00000396060.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 211,
"cds_start": 542,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451876.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000967754.1",
"protein_id": "ENSP00000637813.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 488,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967754.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120Gln",
"transcript": "ENST00000440514.1",
"protein_id": "ENSP00000415188.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 191,
"cds_start": 359,
"cds_end": null,
"cds_length": 577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440514.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Pro161Gln",
"transcript": "NM_001318162.2",
"protein_id": "NP_001305091.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318162.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Pro161Gln",
"transcript": "ENST00000441580.5",
"protein_id": "ENSP00000402224.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441580.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.731C>A",
"hgvs_p": "p.Pro244Gln",
"transcript": "XM_011515755.4",
"protein_id": "XP_011514057.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 274,
"cds_start": 731,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515755.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Pro219Gln",
"transcript": "XM_011515756.4",
"protein_id": "XP_011514058.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 249,
"cds_start": 656,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515756.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.653C>A",
"hgvs_p": "p.Pro218Gln",
"transcript": "XM_011515757.3",
"protein_id": "XP_011514059.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 248,
"cds_start": 653,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515757.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191Gln",
"transcript": "XM_017011703.3",
"protein_id": "XP_016867192.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 221,
"cds_start": 572,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011703.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191Gln",
"transcript": "XM_047419824.1",
"protein_id": "XP_047275780.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 221,
"cds_start": 572,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419824.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Pro186Gln",
"transcript": "XM_047419825.1",
"protein_id": "XP_047275781.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 216,
"cds_start": 557,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419825.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Pro160Gln",
"transcript": "XM_047419826.1",
"protein_id": "XP_047275782.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 190,
"cds_start": 479,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419826.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP5MF-PTCD1",
"gene_hgnc_id": 38844,
"hgvs_c": "c.121+5975G>T",
"hgvs_p": null,
"transcript": "NM_001198879.2",
"protein_id": "NP_001185808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198879.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.-27+12000G>T",
"hgvs_p": null,
"transcript": "ENST00000430982.1",
"protein_id": "ENSP00000390530.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"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": "ENST00000430982.1"
},
{
"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": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "n.425C>A",
"hgvs_p": null,
"transcript": "ENST00000469897.1",
"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": "ENST00000469897.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATP5MF",
"gene_hgnc_id": 848,
"hgvs_c": "n.*129+4087G>T",
"hgvs_p": null,
"transcript": "ENST00000414062.5",
"protein_id": "ENSP00000412149.1",
"transcript_support_level": 4,
"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": "ENST00000414062.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MF-PTCD1",
"gene_hgnc_id": 38844,
"hgvs_c": "n.70-5923G>T",
"hgvs_p": null,
"transcript": "ENST00000437572.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000437572.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP5MF-PTCD1",
"gene_hgnc_id": 38844,
"hgvs_c": "n.121+5975G>T",
"hgvs_p": null,
"transcript": "ENST00000451138.1",
"protein_id": "ENSP00000416954.1",
"transcript_support_level": 4,
"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": "ENST00000451138.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MF",
"gene_hgnc_id": 848,
"hgvs_c": "n.56-4918G>T",
"hgvs_p": null,
"transcript": "ENST00000466753.1",
"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": "pseudogene",
"feature": "ENST00000466753.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "n.*88C>A",
"hgvs_p": null,
"transcript": "ENST00000471455.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471455.1"
}
],
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"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": 0.3402867913246155,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.51,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8078,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.376,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_006693.4",
"gene_symbol": "CPSF4",
"hgnc_id": 2327,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Pro239Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001198879.2",
"gene_symbol": "ATP5MF-PTCD1",
"hgnc_id": 38844,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.121+5975G>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000430982.1",
"gene_symbol": "PTCD1",
"hgnc_id": 22198,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-27+12000G>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000466753.1",
"gene_symbol": "ATP5MF",
"hgnc_id": 848,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.56-4918G>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
}