← 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: 5-112844077-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112844077&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.8567C>T",
"hgvs_p": "p.Thr2856Ile",
"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.229-12572C>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": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1041,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23004505038261414,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "T",
"aa_start": 2828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10704,
"cdna_start": 8542,
"cds_end": null,
"cds_length": 8532,
"cds_start": 8483,
"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.8483C>T",
"hgvs_p": "p.Thr2828Ile",
"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": "I",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "T",
"aa_start": 2828,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10704,
"cdna_start": 8542,
"cds_end": null,
"cds_length": 8532,
"cds_start": 8483,
"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.8483C>T",
"hgvs_p": "p.Thr2828Ile",
"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": "I",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "T",
"aa_start": 2828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10619,
"cdna_start": 8640,
"cds_end": null,
"cds_length": 8532,
"cds_start": 8483,
"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.8483C>T",
"hgvs_p": "p.Thr2828Ile",
"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": 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.229-12572C>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": "I",
"aa_end": null,
"aa_length": 2871,
"aa_ref": "T",
"aa_start": 2856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10949,
"cdna_start": 8787,
"cds_end": null,
"cds_length": 8616,
"cds_start": 8567,
"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.8567C>T",
"hgvs_p": "p.Thr2856Ile",
"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": "I",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "T",
"aa_start": 2846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10758,
"cdna_start": 8596,
"cds_end": null,
"cds_length": 8586,
"cds_start": 8537,
"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.8537C>T",
"hgvs_p": "p.Thr2846Ile",
"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": "I",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "T",
"aa_start": 2846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11102,
"cdna_start": 8940,
"cds_end": null,
"cds_length": 8586,
"cds_start": 8537,
"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.8537C>T",
"hgvs_p": "p.Thr2846Ile",
"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": "I",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "T",
"aa_start": 2846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10869,
"cdna_start": 8707,
"cds_end": null,
"cds_length": 8586,
"cds_start": 8537,
"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.8537C>T",
"hgvs_p": "p.Thr2846Ile",
"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": "I",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "T",
"aa_start": 2846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10866,
"cdna_start": 8704,
"cds_end": null,
"cds_length": 8586,
"cds_start": 8537,
"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.8537C>T",
"hgvs_p": "p.Thr2846Ile",
"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": "I",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "T",
"aa_start": 2846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9496,
"cdna_start": 8593,
"cds_end": null,
"cds_length": 8586,
"cds_start": 8537,
"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.8537C>T",
"hgvs_p": "p.Thr2846Ile",
"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": "I",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "T",
"aa_start": 2846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9766,
"cdna_start": 8707,
"cds_end": null,
"cds_length": 8586,
"cds_start": 8537,
"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.8537C>T",
"hgvs_p": "p.Thr2846Ile",
"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": "I",
"aa_end": null,
"aa_length": 2853,
"aa_ref": "T",
"aa_start": 2838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10895,
"cdna_start": 8733,
"cds_end": null,
"cds_length": 8562,
"cds_start": 8513,
"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.8513C>T",
"hgvs_p": "p.Thr2838Ile",
"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": "I",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "T",
"aa_start": 2828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10812,
"cdna_start": 8650,
"cds_end": null,
"cds_length": 8532,
"cds_start": 8483,
"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.8483C>T",
"hgvs_p": "p.Thr2828Ile",
"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": "I",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "T",
"aa_start": 2828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11048,
"cdna_start": 8886,
"cds_end": null,
"cds_length": 8532,
"cds_start": 8483,
"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.8483C>T",
"hgvs_p": "p.Thr2828Ile",
"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": "I",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "T",
"aa_start": 2828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10815,
"cdna_start": 8653,
"cds_end": null,
"cds_length": 8532,
"cds_start": 8483,
"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.8483C>T",
"hgvs_p": "p.Thr2828Ile",
"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": "I",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "T",
"aa_start": 2828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10616,
"cdna_start": 8633,
"cds_end": null,
"cds_length": 8532,
"cds_start": 8483,
"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.8483C>T",
"hgvs_p": "p.Thr2828Ile",
"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": "I",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "T",
"aa_start": 2828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9737,
"cdna_start": 8834,
"cds_end": null,
"cds_length": 8532,
"cds_start": 8483,
"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.8483C>T",
"hgvs_p": "p.Thr2828Ile",
"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": "I",
"aa_end": null,
"aa_length": 2836,
"aa_ref": "T",
"aa_start": 2821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10713,
"cdna_start": 8551,
"cds_end": null,
"cds_length": 8511,
"cds_start": 8462,
"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.8462C>T",
"hgvs_p": "p.Thr2821Ile",
"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": "I",
"aa_end": null,
"aa_length": 2833,
"aa_ref": "T",
"aa_start": 2818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11018,
"cdna_start": 8856,
"cds_end": null,
"cds_length": 8502,
"cds_start": 8453,
"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.8453C>T",
"hgvs_p": "p.Thr2818Ile",
"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": "I",
"aa_end": null,
"aa_length": 2825,
"aa_ref": "T",
"aa_start": 2810,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10811,
"cdna_start": 8649,
"cds_end": null,
"cds_length": 8478,
"cds_start": 8429,
"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.8429C>T",
"hgvs_p": "p.Thr2810Ile",
"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": "I",
"aa_end": null,
"aa_length": 2825,
"aa_ref": "T",
"aa_start": 2810,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8674,
"cdna_start": 8625,
"cds_end": null,
"cds_length": 8478,
"cds_start": 8429,
"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.8429C>T",
"hgvs_p": "p.Thr2810Ile",
"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": "I",
"aa_end": null,
"aa_length": 2818,
"aa_ref": "T",
"aa_start": 2803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10659,
"cdna_start": 8497,
"cds_end": null,
"cds_length": 8457,
"cds_start": 8408,
"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.8408C>T",
"hgvs_p": "p.Thr2803Ile",
"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": "I",
"aa_end": null,
"aa_length": 2815,
"aa_ref": "T",
"aa_start": 2800,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10620,
"cdna_start": 8458,
"cds_end": null,
"cds_length": 8448,
"cds_start": 8399,
"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.8399C>T",
"hgvs_p": "p.Thr2800Ile",
"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": "I",
"aa_end": null,
"aa_length": 2802,
"aa_ref": "T",
"aa_start": 2787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10605,
"cdna_start": 8443,
"cds_end": null,
"cds_length": 8409,
"cds_start": 8360,
"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.8360C>T",
"hgvs_p": "p.Thr2787Ile",
"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": "I",
"aa_end": null,
"aa_length": 2784,
"aa_ref": "T",
"aa_start": 2769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10551,
"cdna_start": 8389,
"cds_end": null,
"cds_length": 8355,
"cds_start": 8306,
"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.8306C>T",
"hgvs_p": "p.Thr2769Ile",
"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": "I",
"aa_end": null,
"aa_length": 2784,
"aa_ref": "T",
"aa_start": 2769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10662,
"cdna_start": 8500,
"cds_end": null,
"cds_length": 8355,
"cds_start": 8306,
"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.8306C>T",
"hgvs_p": "p.Thr2769Ile",
"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": "I",
"aa_end": null,
"aa_length": 2760,
"aa_ref": "T",
"aa_start": 2745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10455,
"cdna_start": 8293,
"cds_end": null,
"cds_length": 8283,
"cds_start": 8234,
"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.8234C>T",
"hgvs_p": "p.Thr2745Ile",
"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": "I",
"aa_end": null,
"aa_length": 2760,
"aa_ref": "T",
"aa_start": 2745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10563,
"cdna_start": 8401,
"cds_end": null,
"cds_length": 8283,
"cds_start": 8234,
"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.8234C>T",
"hgvs_p": "p.Thr2745Ile",
"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": "I",
"aa_end": null,
"aa_length": 2760,
"aa_ref": "T",
"aa_start": 2745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10799,
"cdna_start": 8637,
"cds_end": null,
"cds_length": 8283,
"cds_start": 8234,
"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.8234C>T",
"hgvs_p": "p.Thr2745Ile",
"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": "I",
"aa_end": null,
"aa_length": 2760,
"aa_ref": "T",
"aa_start": 2745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10566,
"cdna_start": 8404,
"cds_end": null,
"cds_length": 8283,
"cds_start": 8234,
"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.8234C>T",
"hgvs_p": "p.Thr2745Ile",
"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": "I",
"aa_end": null,
"aa_length": 2752,
"aa_ref": "T",
"aa_start": 2737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10592,
"cdna_start": 8430,
"cds_end": null,
"cds_length": 8259,
"cds_start": 8210,
"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.8210C>T",
"hgvs_p": "p.Thr2737Ile",
"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": "I",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "T",
"aa_start": 2727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10401,
"cdna_start": 8239,
"cds_end": null,
"cds_length": 8229,
"cds_start": 8180,
"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.8180C>T",
"hgvs_p": "p.Thr2727Ile",
"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": "I",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "T",
"aa_start": 2727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10512,
"cdna_start": 8350,
"cds_end": null,
"cds_length": 8229,
"cds_start": 8180,
"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.8180C>T",
"hgvs_p": "p.Thr2727Ile",
"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": "I",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "T",
"aa_start": 2727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10509,
"cdna_start": 8347,
"cds_end": null,
"cds_length": 8229,
"cds_start": 8180,
"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.8180C>T",
"hgvs_p": "p.Thr2727Ile",
"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": "I",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "T",
"aa_start": 2727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10745,
"cdna_start": 8583,
"cds_end": null,
"cds_length": 8229,
"cds_start": 8180,
"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.8180C>T",
"hgvs_p": "p.Thr2727Ile",
"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": "I",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "T",
"aa_start": 2727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9398,
"cdna_start": 8325,
"cds_end": null,
"cds_length": 8229,
"cds_start": 8180,
"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.8180C>T",
"hgvs_p": "p.Thr2727Ile",
"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": "I",
"aa_end": null,
"aa_length": 2742,
"aa_ref": "T",
"aa_start": 2727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9248,
"cdna_start": 8243,
"cds_end": null,
"cds_length": 8229,
"cds_start": 8180,
"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.8180C>T",
"hgvs_p": "p.Thr2727Ile",
"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": "I",
"aa_end": null,
"aa_length": 2737,
"aa_ref": "T",
"aa_start": 2722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9148,
"cdna_start": 8245,
"cds_end": null,
"cds_length": 8214,
"cds_start": 8165,
"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.8165C>T",
"hgvs_p": "p.Thr2722Ile",
"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": "I",
"aa_end": null,
"aa_length": 2717,
"aa_ref": "T",
"aa_start": 2702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10356,
"cdna_start": 8194,
"cds_end": null,
"cds_length": 8154,
"cds_start": 8105,
"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.8105C>T",
"hgvs_p": "p.Thr2702Ile",
"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": "I",
"aa_end": null,
"aa_length": 2714,
"aa_ref": "T",
"aa_start": 2699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10317,
"cdna_start": 8155,
"cds_end": null,
"cds_length": 8145,
"cds_start": 8096,
"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.8096C>T",
"hgvs_p": "p.Thr2699Ile",
"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": "I",
"aa_end": null,
"aa_length": 2714,
"aa_ref": "T",
"aa_start": 2699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10661,
"cdna_start": 8499,
"cds_end": null,
"cds_length": 8145,
"cds_start": 8096,
"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.8096C>T",
"hgvs_p": "p.Thr2699Ile",
"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": "I",
"aa_end": null,
"aa_length": 2683,
"aa_ref": "T",
"aa_start": 2668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10248,
"cdna_start": 8086,
"cds_end": null,
"cds_length": 8052,
"cds_start": 8003,
"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.8003C>T",
"hgvs_p": "p.Thr2668Ile",
"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": "I",
"aa_end": null,
"aa_length": 2560,
"aa_ref": "T",
"aa_start": 2545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10890,
"cdna_start": 8728,
"cds_end": null,
"cds_length": 7683,
"cds_start": 7634,
"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.7634C>T",
"hgvs_p": "p.Thr2545Ile",
"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": "I",
"aa_end": null,
"aa_length": 2560,
"aa_ref": "T",
"aa_start": 2545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11234,
"cdna_start": 9072,
"cds_end": null,
"cds_length": 7683,
"cds_start": 7634,
"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.7634C>T",
"hgvs_p": "p.Thr2545Ile",
"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": "I",
"aa_end": null,
"aa_length": 2459,
"aa_ref": "T",
"aa_start": 2444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10587,
"cdna_start": 8425,
"cds_end": null,
"cds_length": 7380,
"cds_start": 7331,
"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.7331C>T",
"hgvs_p": "p.Thr2444Ile",
"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": "I",
"aa_end": null,
"aa_length": 2459,
"aa_ref": "T",
"aa_start": 2444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10931,
"cdna_start": 8769,
"cds_end": null,
"cds_length": 7380,
"cds_start": 7331,
"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.7331C>T",
"hgvs_p": "p.Thr2444Ile",
"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.*6465C>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.*8489C>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": 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.*7972C>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.8318C>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.8737C>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.*8489C>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": 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.*7972C>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": "rs1554089195",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013732171,
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000137322,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.168,
"pos": 112844077,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.124,
"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"
}
]
}