← 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: 5-112841373-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112841373&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APC",
"hgnc_id": 583,
"hgvs_c": "c.5863C>T",
"hgvs_p": "p.Leu1955Phe",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001407446.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000258864",
"hgnc_id": null,
"hgvs_c": "n.228+12401C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000520401.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0703,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Familial adenomatous polyposis 1,Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19573774933815002,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 1927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10704,
"cdna_start": 5838,
"cds_end": null,
"cds_length": 8532,
"cds_start": 5779,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_000038.6",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5779C>T",
"hgvs_p": "p.Leu1927Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257430.9",
"protein_coding": true,
"protein_id": "NP_000029.2",
"strand": true,
"transcript": "NM_000038.6",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 1927,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10704,
"cdna_start": 5838,
"cds_end": null,
"cds_length": 8532,
"cds_start": 5779,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000257430.9",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5779C>T",
"hgvs_p": "p.Leu1927Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000038.6",
"protein_coding": true,
"protein_id": "ENSP00000257430.4",
"strand": true,
"transcript": "ENST00000257430.9",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 1927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10619,
"cdna_start": 5936,
"cds_end": null,
"cds_length": 8532,
"cds_start": 5779,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000508376.6",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5779C>T",
"hgvs_p": "p.Leu1927Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427089.2",
"strand": true,
"transcript": "ENST00000508376.6",
"transcript_support_level": 1
},
{
"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": 7406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000508624.5",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5101C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424265.1",
"strand": true,
"transcript": "ENST00000508624.5",
"transcript_support_level": 1
},
{
"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": 7406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000508624.5",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5101C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424265.1",
"strand": true,
"transcript": "ENST00000508624.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 694,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000520401.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258864",
"hgvs_c": "n.228+12401C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454861.1",
"strand": true,
"transcript": "ENST00000520401.1",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2871,
"aa_ref": "L",
"aa_start": 1955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10949,
"cdna_start": 6083,
"cds_end": null,
"cds_length": 8616,
"cds_start": 5863,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001407446.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5863C>T",
"hgvs_p": "p.Leu1955Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394375.1",
"strand": true,
"transcript": "NM_001407446.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 1945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10758,
"cdna_start": 5892,
"cds_end": null,
"cds_length": 8586,
"cds_start": 5833,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001354896.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5833C>T",
"hgvs_p": "p.Leu1945Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341825.1",
"strand": true,
"transcript": "NM_001354896.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 1945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11102,
"cdna_start": 6236,
"cds_end": null,
"cds_length": 8586,
"cds_start": 5833,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407447.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5833C>T",
"hgvs_p": "p.Leu1945Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394376.1",
"strand": true,
"transcript": "NM_001407447.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 1945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10869,
"cdna_start": 6003,
"cds_end": null,
"cds_length": 8586,
"cds_start": 5833,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407448.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5833C>T",
"hgvs_p": "p.Leu1945Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394377.1",
"strand": true,
"transcript": "NM_001407448.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 1945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10866,
"cdna_start": 6000,
"cds_end": null,
"cds_length": 8586,
"cds_start": 5833,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001407449.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5833C>T",
"hgvs_p": "p.Leu1945Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394378.1",
"strand": true,
"transcript": "NM_001407449.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 1945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9496,
"cdna_start": 5889,
"cds_end": null,
"cds_length": 8586,
"cds_start": 5833,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000504915.3",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5833C>T",
"hgvs_p": "p.Leu1945Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473355.2",
"strand": true,
"transcript": "ENST00000504915.3",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 1945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9766,
"cdna_start": 6003,
"cds_end": null,
"cds_length": 8586,
"cds_start": 5833,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951167.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5833C>T",
"hgvs_p": "p.Leu1945Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621226.1",
"strand": true,
"transcript": "ENST00000951167.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2853,
"aa_ref": "L",
"aa_start": 1937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10895,
"cdna_start": 6029,
"cds_end": null,
"cds_length": 8562,
"cds_start": 5809,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001354897.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5809C>T",
"hgvs_p": "p.Leu1937Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341826.1",
"strand": true,
"transcript": "NM_001354897.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 1927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10812,
"cdna_start": 5946,
"cds_end": null,
"cds_length": 8532,
"cds_start": 5779,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001127510.3",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5779C>T",
"hgvs_p": "p.Leu1927Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120982.1",
"strand": true,
"transcript": "NM_001127510.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 1927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11048,
"cdna_start": 6182,
"cds_end": null,
"cds_length": 8532,
"cds_start": 5779,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001354895.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5779C>T",
"hgvs_p": "p.Leu1927Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341824.1",
"strand": true,
"transcript": "NM_001354895.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 1927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10815,
"cdna_start": 5949,
"cds_end": null,
"cds_length": 8532,
"cds_start": 5779,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001407450.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5779C>T",
"hgvs_p": "p.Leu1927Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394379.1",
"strand": true,
"transcript": "NM_001407450.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 1927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10616,
"cdna_start": 5929,
"cds_end": null,
"cds_length": 8532,
"cds_start": 5779,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000509732.6",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5779C>T",
"hgvs_p": "p.Leu1927Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426541.2",
"strand": true,
"transcript": "ENST00000509732.6",
"transcript_support_level": 4
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 1927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9737,
"cdna_start": 6130,
"cds_end": null,
"cds_length": 8532,
"cds_start": 5779,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000512211.7",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5779C>T",
"hgvs_p": "p.Leu1927Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423828.3",
"strand": true,
"transcript": "ENST00000512211.7",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2836,
"aa_ref": "L",
"aa_start": 1920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10713,
"cdna_start": 5847,
"cds_end": null,
"cds_length": 8511,
"cds_start": 5758,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407451.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5758C>T",
"hgvs_p": "p.Leu1920Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394380.1",
"strand": true,
"transcript": "NM_001407451.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2833,
"aa_ref": "L",
"aa_start": 1917,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11018,
"cdna_start": 6152,
"cds_end": null,
"cds_length": 8502,
"cds_start": 5749,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001407452.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5749C>T",
"hgvs_p": "p.Leu1917Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394381.1",
"strand": true,
"transcript": "NM_001407452.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2825,
"aa_ref": "L",
"aa_start": 1909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10811,
"cdna_start": 5945,
"cds_end": null,
"cds_length": 8478,
"cds_start": 5725,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001127511.3",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5725C>T",
"hgvs_p": "p.Leu1909Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120983.2",
"strand": true,
"transcript": "NM_001127511.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2825,
"aa_ref": "L",
"aa_start": 1909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8674,
"cdna_start": 5921,
"cds_end": null,
"cds_length": 8478,
"cds_start": 5725,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000507379.6",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5725C>T",
"hgvs_p": "p.Leu1909Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423224.2",
"strand": true,
"transcript": "ENST00000507379.6",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2818,
"aa_ref": "L",
"aa_start": 1902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10659,
"cdna_start": 5793,
"cds_end": null,
"cds_length": 8457,
"cds_start": 5704,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001354898.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5704C>T",
"hgvs_p": "p.Leu1902Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341827.1",
"strand": true,
"transcript": "NM_001354898.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2815,
"aa_ref": "L",
"aa_start": 1899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10620,
"cdna_start": 5754,
"cds_end": null,
"cds_length": 8448,
"cds_start": 5695,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001354899.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5695C>T",
"hgvs_p": "p.Leu1899Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341828.1",
"strand": true,
"transcript": "NM_001354899.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2802,
"aa_ref": "L",
"aa_start": 1886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10605,
"cdna_start": 5739,
"cds_end": null,
"cds_length": 8409,
"cds_start": 5656,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001354900.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5656C>T",
"hgvs_p": "p.Leu1886Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341829.1",
"strand": true,
"transcript": "NM_001354900.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2784,
"aa_ref": "L",
"aa_start": 1868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10551,
"cdna_start": 5685,
"cds_end": null,
"cds_length": 8355,
"cds_start": 5602,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001354901.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5602C>T",
"hgvs_p": "p.Leu1868Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341830.1",
"strand": true,
"transcript": "NM_001354901.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2784,
"aa_ref": "L",
"aa_start": 1868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10662,
"cdna_start": 5796,
"cds_end": null,
"cds_length": 8355,
"cds_start": 5602,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001407453.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5602C>T",
"hgvs_p": "p.Leu1868Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394382.1",
"strand": true,
"transcript": "NM_001407453.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2760,
"aa_ref": "L",
"aa_start": 1844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10455,
"cdna_start": 5589,
"cds_end": null,
"cds_length": 8283,
"cds_start": 5530,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407454.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5530C>T",
"hgvs_p": "p.Leu1844Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394383.1",
"strand": true,
"transcript": "NM_001407454.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2760,
"aa_ref": "L",
"aa_start": 1844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10563,
"cdna_start": 5697,
"cds_end": null,
"cds_length": 8283,
"cds_start": 5530,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001407455.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5530C>T",
"hgvs_p": "p.Leu1844Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394384.1",
"strand": true,
"transcript": "NM_001407455.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2760,
"aa_ref": "L",
"aa_start": 1844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10799,
"cdna_start": 5933,
"cds_end": null,
"cds_length": 8283,
"cds_start": 5530,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407456.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5530C>T",
"hgvs_p": "p.Leu1844Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394385.1",
"strand": true,
"transcript": "NM_001407456.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2760,
"aa_ref": "L",
"aa_start": 1844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10566,
"cdna_start": 5700,
"cds_end": null,
"cds_length": 8283,
"cds_start": 5530,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407457.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5530C>T",
"hgvs_p": "p.Leu1844Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394386.1",
"strand": true,
"transcript": "NM_001407457.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2752,
"aa_ref": "L",
"aa_start": 1836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10592,
"cdna_start": 5726,
"cds_end": null,
"cds_length": 8259,
"cds_start": 5506,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001354902.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5506C>T",
"hgvs_p": "p.Leu1836Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341831.1",
"strand": true,
"transcript": "NM_001354902.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "L",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10401,
"cdna_start": 5535,
"cds_end": null,
"cds_length": 8229,
"cds_start": 5476,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001354903.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5476C>T",
"hgvs_p": "p.Leu1826Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341832.1",
"strand": true,
"transcript": "NM_001354903.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "L",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10512,
"cdna_start": 5646,
"cds_end": null,
"cds_length": 8229,
"cds_start": 5476,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001407458.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5476C>T",
"hgvs_p": "p.Leu1826Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394387.1",
"strand": true,
"transcript": "NM_001407458.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "L",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10509,
"cdna_start": 5643,
"cds_end": null,
"cds_length": 8229,
"cds_start": 5476,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407459.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5476C>T",
"hgvs_p": "p.Leu1826Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394388.1",
"strand": true,
"transcript": "NM_001407459.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "L",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10745,
"cdna_start": 5879,
"cds_end": null,
"cds_length": 8229,
"cds_start": 5476,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001407460.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5476C>T",
"hgvs_p": "p.Leu1826Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394389.1",
"strand": true,
"transcript": "NM_001407460.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "L",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9398,
"cdna_start": 5621,
"cds_end": null,
"cds_length": 8229,
"cds_start": 5476,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000917934.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5476C>T",
"hgvs_p": "p.Leu1826Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587993.1",
"strand": true,
"transcript": "ENST00000917934.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "L",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9248,
"cdna_start": 5539,
"cds_end": null,
"cds_length": 8229,
"cds_start": 5476,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000917935.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5476C>T",
"hgvs_p": "p.Leu1826Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587994.1",
"strand": true,
"transcript": "ENST00000917935.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2737,
"aa_ref": "L",
"aa_start": 1821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9148,
"cdna_start": 5541,
"cds_end": null,
"cds_length": 8214,
"cds_start": 5461,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713639.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5461C>T",
"hgvs_p": "p.Leu1821Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518940.1",
"strand": true,
"transcript": "ENST00000713639.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2717,
"aa_ref": "L",
"aa_start": 1801,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10356,
"cdna_start": 5490,
"cds_end": null,
"cds_length": 8154,
"cds_start": 5401,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001354904.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5401C>T",
"hgvs_p": "p.Leu1801Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341833.1",
"strand": true,
"transcript": "NM_001354904.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2714,
"aa_ref": "L",
"aa_start": 1798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10317,
"cdna_start": 5451,
"cds_end": null,
"cds_length": 8145,
"cds_start": 5392,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001407467.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5392C>T",
"hgvs_p": "p.Leu1798Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394396.1",
"strand": true,
"transcript": "NM_001407467.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2714,
"aa_ref": "L",
"aa_start": 1798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10661,
"cdna_start": 5795,
"cds_end": null,
"cds_length": 8145,
"cds_start": 5392,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001407469.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5392C>T",
"hgvs_p": "p.Leu1798Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394398.1",
"strand": true,
"transcript": "NM_001407469.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2683,
"aa_ref": "L",
"aa_start": 1767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10248,
"cdna_start": 5382,
"cds_end": null,
"cds_length": 8052,
"cds_start": 5299,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001354905.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.5299C>T",
"hgvs_p": "p.Leu1767Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341834.1",
"strand": true,
"transcript": "NM_001354905.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2560,
"aa_ref": "L",
"aa_start": 1644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10890,
"cdna_start": 6024,
"cds_end": null,
"cds_length": 7683,
"cds_start": 4930,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001354906.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.4930C>T",
"hgvs_p": "p.Leu1644Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341835.1",
"strand": true,
"transcript": "NM_001354906.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2560,
"aa_ref": "L",
"aa_start": 1644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11234,
"cdna_start": 6368,
"cds_end": null,
"cds_length": 7683,
"cds_start": 4930,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407470.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.4930C>T",
"hgvs_p": "p.Leu1644Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394399.1",
"strand": true,
"transcript": "NM_001407470.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2459,
"aa_ref": "L",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10587,
"cdna_start": 5721,
"cds_end": null,
"cds_length": 7380,
"cds_start": 4627,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407471.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.4627C>T",
"hgvs_p": "p.Leu1543Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394400.1",
"strand": true,
"transcript": "NM_001407471.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2459,
"aa_ref": "L",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10931,
"cdna_start": 6065,
"cds_end": null,
"cds_length": 7380,
"cds_start": 4627,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001407472.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.4627C>T",
"hgvs_p": "p.Leu1543Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394401.1",
"strand": true,
"transcript": "NM_001407472.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 600,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8702,
"cdna_start": null,
"cds_end": null,
"cds_length": 1803,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713638.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.*3761C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518939.1",
"strand": true,
"transcript": "ENST00000713638.1",
"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": 10920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000505350.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5785C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000481752.1",
"strand": true,
"transcript": "ENST00000505350.2",
"transcript_support_level": 3
},
{
"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": 6337,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000713636.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5046C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518937.1",
"strand": true,
"transcript": "ENST00000713636.1",
"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": 9219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000713637.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5268C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518938.1",
"strand": true,
"transcript": "ENST00000713637.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10480,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NR_176365.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.5614C>T",
"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": "NR_176365.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10899,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_176366.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.6033C>T",
"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": "NR_176366.1",
"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": 10920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000505350.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5785C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000481752.1",
"strand": true,
"transcript": "ENST00000505350.2",
"transcript_support_level": 3
},
{
"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": 6337,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000713636.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5046C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518937.1",
"strand": true,
"transcript": "ENST00000713636.1",
"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": 9219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000713637.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5268C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518938.1",
"strand": true,
"transcript": "ENST00000713637.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs730881253",
"effect": "missense_variant",
"frequency_reference_population": 6.8432314e-7,
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84323e-7,
"gnomad_exomes_homalt": 0,
"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": "Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.902,
"pos": 112841373,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.193,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001407446.1"
}
]
}