← 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: 19-35873645-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35873645&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APLP1",
"hgnc_id": 597,
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001024807.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.93,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.30860212445259094,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1956,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001024807.3",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000221891.9",
"protein_coding": true,
"protein_id": "NP_001019978.1",
"strand": true,
"transcript": "NM_001024807.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1956,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000221891.9",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001024807.3",
"protein_coding": true,
"protein_id": "ENSP00000221891.4",
"strand": true,
"transcript": "ENST00000221891.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 673,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 2022,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960045.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630104.1",
"strand": true,
"transcript": "ENST00000960045.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1968,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898023.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568082.1",
"strand": true,
"transcript": "ENST00000898023.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 654,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1965,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898026.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568085.1",
"strand": true,
"transcript": "ENST00000898026.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1953,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005166.5",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005157.1",
"strand": true,
"transcript": "NM_005166.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1953,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000652533.2",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498366.1",
"strand": true,
"transcript": "ENST00000652533.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1947,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898022.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568081.1",
"strand": true,
"transcript": "ENST00000898022.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1947,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898029.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568088.1",
"strand": true,
"transcript": "ENST00000898029.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1944,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898020.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568079.1",
"strand": true,
"transcript": "ENST00000898020.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1944,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898034.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568093.1",
"strand": true,
"transcript": "ENST00000898034.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 646,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1941,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000912740.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582799.1",
"strand": true,
"transcript": "ENST00000912740.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1935,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000586861.5",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.970C>A",
"hgvs_p": "p.Arg324Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465694.1",
"strand": true,
"transcript": "ENST00000586861.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 639,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1920,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898030.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568089.1",
"strand": true,
"transcript": "ENST00000898030.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1917,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898032.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.952C>A",
"hgvs_p": "p.Arg318Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568091.1",
"strand": true,
"transcript": "ENST00000898032.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1914,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960049.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630108.1",
"strand": true,
"transcript": "ENST00000960049.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1899,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898033.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.934C>A",
"hgvs_p": "p.Arg312Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568092.1",
"strand": true,
"transcript": "ENST00000898033.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1893,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898028.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568087.1",
"strand": true,
"transcript": "ENST00000898028.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 629,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1890,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898024.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568083.1",
"strand": true,
"transcript": "ENST00000898024.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1845,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898031.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568090.1",
"strand": true,
"transcript": "ENST00000898031.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 1836,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000537454.6",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.871C>A",
"hgvs_p": "p.Arg291Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441501.1",
"strand": true,
"transcript": "ENST00000537454.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1836,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960046.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630105.1",
"strand": true,
"transcript": "ENST00000960046.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 610,
"aa_ref": "R",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1833,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898025.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568084.1",
"strand": true,
"transcript": "ENST00000898025.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1821,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000912739.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582798.1",
"strand": true,
"transcript": "ENST00000912739.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1809,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898035.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.844C>A",
"hgvs_p": "p.Arg282Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568094.1",
"strand": true,
"transcript": "ENST00000898035.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1809,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898037.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568096.1",
"strand": true,
"transcript": "ENST00000898037.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 601,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1806,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960047.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630106.1",
"strand": true,
"transcript": "ENST00000960047.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1797,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898021.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568080.1",
"strand": true,
"transcript": "ENST00000898021.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1785,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960048.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630107.1",
"strand": true,
"transcript": "ENST00000960048.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1770,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898027.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568086.1",
"strand": true,
"transcript": "ENST00000898027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1324,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 882,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000592316.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.697C>A",
"hgvs_p": "p.Arg233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467854.1",
"strand": true,
"transcript": "ENST00000592316.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2211,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1797,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017026737.3",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882226.1",
"strand": true,
"transcript": "XM_017026737.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1794,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017026738.3",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882227.1",
"strand": true,
"transcript": "XM_017026738.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 573,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": null,
"cds_end": null,
"cds_length": 1722,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898036.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.981+1032C>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568095.1",
"strand": true,
"transcript": "ENST00000898036.1",
"transcript_support_level": null
},
{
"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": 2295,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000590561.5",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "n.*549C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466623.1",
"strand": true,
"transcript": "ENST00000590561.5",
"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": 2295,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000590561.5",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "n.*549C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466623.1",
"strand": true,
"transcript": "ENST00000590561.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 664,
"cdna_start": null,
"cds_end": null,
"cds_length": 662,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588808.5",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.-3C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466576.2",
"strand": true,
"transcript": "ENST00000588808.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1475297217",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.358,
"pos": 35873645,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.114,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001024807.3"
}
]
}