← 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: 14-94115843-GCC-TCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94115843&ref=GCC&alt=TCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IFI27",
"hgnc_id": 5397,
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001130080.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 652,
"cdna_start": 304,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001130080.3",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000621160.5",
"protein_coding": true,
"protein_id": "NP_001123552.1",
"strand": true,
"transcript": "NM_001130080.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 652,
"cdna_start": 304,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621160.5",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130080.3",
"protein_coding": true,
"protein_id": "ENSP00000483498.1",
"strand": true,
"transcript": "ENST00000621160.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": 357,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288952.2",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275881.1",
"strand": true,
"transcript": "NM_001288952.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 618,
"cdna_start": 270,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288956.2",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275885.1",
"strand": true,
"transcript": "NM_001288956.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 720,
"cdna_start": 372,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366993.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353922.1",
"strand": true,
"transcript": "NM_001366993.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": 234,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366994.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353923.1",
"strand": true,
"transcript": "NM_001366994.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 725,
"cdna_start": 372,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000612813.4",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483430.1",
"strand": true,
"transcript": "ENST00000612813.4",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 714,
"cdna_start": 361,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616764.5",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477753.1",
"strand": true,
"transcript": "ENST00000616764.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 633,
"cdna_start": 275,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858888.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528947.1",
"strand": true,
"transcript": "ENST00000858888.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 664,
"cdna_start": 310,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858889.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528948.1",
"strand": true,
"transcript": "ENST00000858889.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": 447,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858890.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528949.1",
"strand": true,
"transcript": "ENST00000858890.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 606,
"cdna_start": 253,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858892.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528951.1",
"strand": true,
"transcript": "ENST00000858892.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1360,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858894.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528953.1",
"strand": true,
"transcript": "ENST00000858894.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 680,
"cdna_start": 328,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858896.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528955.1",
"strand": true,
"transcript": "ENST00000858896.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 672,
"cdna_start": 319,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858897.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528956.1",
"strand": true,
"transcript": "ENST00000858897.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 734,
"cdna_start": 386,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858899.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528958.1",
"strand": true,
"transcript": "ENST00000858899.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 624,
"cdna_start": 275,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965112.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635171.1",
"strand": true,
"transcript": "ENST00000965112.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 121,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 659,
"cdna_start": 309,
"cds_end": null,
"cds_length": 366,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858891.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528950.1",
"strand": true,
"transcript": "ENST00000858891.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 112,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 599,
"cdna_start": 248,
"cds_end": null,
"cds_length": 339,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000620396.4",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.154_156delGCCinsTCT",
"hgvs_p": "p.Ala52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483954.1",
"strand": true,
"transcript": "ENST00000620396.4",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 112,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 597,
"cdna_start": 245,
"cds_end": null,
"cds_length": 339,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858895.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.154_156delGCCinsTCT",
"hgvs_p": "p.Ala52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528954.1",
"strand": true,
"transcript": "ENST00000858895.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 95,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 364,
"cdna_start": 259,
"cds_end": null,
"cds_length": 289,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618200.4",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478718.1",
"strand": true,
"transcript": "ENST00000618200.4",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 79,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 503,
"cdna_start": 155,
"cds_end": null,
"cds_length": 240,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288959.2",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.55_57delGCCinsTCT",
"hgvs_p": "p.Ala19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275888.1",
"strand": true,
"transcript": "NM_001288959.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 79,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 505,
"cdna_start": 157,
"cds_end": null,
"cds_length": 240,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618863.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.55_57delGCCinsTCT",
"hgvs_p": "p.Ala19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482635.1",
"strand": true,
"transcript": "ENST00000618863.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 64,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 692,
"cdna_start": 681,
"cds_end": null,
"cds_length": 195,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614204.4",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479250.1",
"strand": true,
"transcript": "ENST00000614204.4",
"transcript_support_level": 5
},
{
"aa_alt": "LF",
"aa_end": null,
"aa_length": 154,
"aa_ref": "RL",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"cdna_start": 230,
"cds_end": null,
"cds_length": 465,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431346.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.215_217delGCCinsTCT",
"hgvs_p": "p.ArgLeu72LeuPhe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287302.1",
"strand": true,
"transcript": "XM_047431346.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": 323,
"cds_end": null,
"cds_length": 369,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431349.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.184_186delGCCinsTCT",
"hgvs_p": "p.Ala62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287305.1",
"strand": true,
"transcript": "XM_047431349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 96,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 549,
"cdna_start": null,
"cds_end": null,
"cds_length": 291,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858893.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.122-16_122-14delGCCinsTCT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528952.1",
"strand": true,
"transcript": "ENST00000858893.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 96,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"cdna_start": null,
"cds_end": null,
"cds_length": 291,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858898.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.122-16_122-14delGCCinsTCT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528957.1",
"strand": true,
"transcript": "ENST00000858898.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 96,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": null,
"cds_end": null,
"cds_length": 291,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965111.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.122-16_122-14delGCCinsTCT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635170.1",
"strand": true,
"transcript": "ENST00000965111.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000612499.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "n.2093_2095delGCCinsTCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000612499.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 666,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000614288.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "n.92_94delGCCinsTCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483072.1",
"strand": true,
"transcript": "ENST00000614288.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000614648.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "n.333_335delGCCinsTCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000614648.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 59,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 227,
"cdna_start": null,
"cds_end": null,
"cds_length": 180,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000611954.4",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.*4_*6delGCCinsTCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483404.1",
"strand": true,
"transcript": "ENST00000611954.4",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.232,
"pos": 94115843,
"ref": "GCC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001130080.3"
}
]
}