← 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: 6-52264696-GT-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52264696&ref=GT&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MCM3",
"hgnc_id": 6945,
"hgvs_c": "c.2469_2470delACinsCA",
"hgvs_p": "p.GlnPro823HisThr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001366369.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 808,
"aa_ref": "N",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2427,
"cds_start": 2318,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002388.6",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2318_2319delACinsCA",
"hgvs_p": "p.Asn773Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000596288.7",
"protein_coding": true,
"protein_id": "NP_002379.4",
"strand": false,
"transcript": "NM_002388.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 808,
"aa_ref": "N",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2427,
"cds_start": 2318,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000596288.7",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2318_2319delACinsCA",
"hgvs_p": "p.Asn773Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002388.6",
"protein_coding": true,
"protein_id": "ENSP00000472940.2",
"strand": false,
"transcript": "ENST00000596288.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 853,
"aa_ref": "N",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 2526,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2453,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616552.4",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2453_2454delACinsCA",
"hgvs_p": "p.Asn818Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480987.1",
"strand": false,
"transcript": "ENST00000616552.4",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 818,
"aa_ref": "N",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2348,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000229854.12",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2348_2349delACinsCA",
"hgvs_p": "p.Asn783Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000229854.6",
"strand": false,
"transcript": "ENST00000229854.12",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "N",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 2553,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860054.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2411_2412delACinsCA",
"hgvs_p": "p.Asn804Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530113.1",
"strand": false,
"transcript": "ENST00000860054.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "N",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 2478,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860058.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2411_2412delACinsCA",
"hgvs_p": "p.Asn804Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530117.1",
"strand": false,
"transcript": "ENST00000860058.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 834,
"aa_ref": "N",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 2498,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2396,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939873.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2396_2397delACinsCA",
"hgvs_p": "p.Asn799Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609932.1",
"strand": false,
"transcript": "ENST00000939873.1",
"transcript_support_level": null
},
{
"aa_alt": "HT",
"aa_end": null,
"aa_length": 833,
"aa_ref": "QP",
"aa_start": 823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 2538,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2469,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366369.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2469_2470delACinsCA",
"hgvs_p": "p.GlnPro823HisThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353298.1",
"strand": false,
"transcript": "NM_001366369.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2438,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2369,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366370.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2369_2370delACinsCA",
"hgvs_p": "p.Asn790Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353299.1",
"strand": false,
"transcript": "NM_001366370.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 2388,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2369,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860060.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2369_2370delACinsCA",
"hgvs_p": "p.Asn790Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530119.1",
"strand": false,
"transcript": "ENST00000860060.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 821,
"aa_ref": "N",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2357,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939874.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2357_2358delACinsCA",
"hgvs_p": "p.Asn786Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609933.1",
"strand": false,
"transcript": "ENST00000939874.1",
"transcript_support_level": null
},
{
"aa_alt": "HT",
"aa_end": null,
"aa_length": 816,
"aa_ref": "QP",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3168,
"cdna_start": 2487,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366371.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2418_2419delACinsCA",
"hgvs_p": "p.GlnPro806HisThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353300.1",
"strand": false,
"transcript": "NM_001366371.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 807,
"aa_ref": "N",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2315,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860057.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2315_2316delACinsCA",
"hgvs_p": "p.Asn772Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530116.1",
"strand": false,
"transcript": "ENST00000860057.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 807,
"aa_ref": "N",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2315,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939871.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2315_2316delACinsCA",
"hgvs_p": "p.Asn772Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609930.1",
"strand": false,
"transcript": "ENST00000939871.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 807,
"aa_ref": "N",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2315,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939872.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2315_2316delACinsCA",
"hgvs_p": "p.Asn772Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609931.1",
"strand": false,
"transcript": "ENST00000939872.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "N",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3075,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2303,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939876.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2303_2304delACinsCA",
"hgvs_p": "p.Asn768Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609935.1",
"strand": false,
"transcript": "ENST00000939876.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 794,
"aa_ref": "N",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 2385,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939881.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2276_2277delACinsCA",
"hgvs_p": "p.Asn759Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609940.1",
"strand": false,
"transcript": "ENST00000939881.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 791,
"aa_ref": "N",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2267,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366372.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2267_2268delACinsCA",
"hgvs_p": "p.Asn756Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353301.1",
"strand": false,
"transcript": "NM_001366372.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 791,
"aa_ref": "N",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2267,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860056.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2267_2268delACinsCA",
"hgvs_p": "p.Asn756Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530115.1",
"strand": false,
"transcript": "ENST00000860056.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 765,
"aa_ref": "N",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 2298,
"cds_start": 2189,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860055.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2189_2190delACinsCA",
"hgvs_p": "p.Asn730Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530114.1",
"strand": false,
"transcript": "ENST00000860055.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 764,
"aa_ref": "N",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2186,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939880.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2186_2187delACinsCA",
"hgvs_p": "p.Asn729Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609939.1",
"strand": false,
"transcript": "ENST00000939880.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 762,
"aa_ref": "N",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2289,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270472.3",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2180_2181delACinsCA",
"hgvs_p": "p.Asn727Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257401.2",
"strand": false,
"transcript": "NM_001270472.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 762,
"aa_ref": "N",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 2289,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000419835.8",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2180_2181delACinsCA",
"hgvs_p": "p.Asn727Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388647.4",
"strand": false,
"transcript": "ENST00000419835.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 761,
"aa_ref": "N",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 2267,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939877.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2177_2178delACinsCA",
"hgvs_p": "p.Asn726Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609936.1",
"strand": false,
"transcript": "ENST00000939877.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 756,
"aa_ref": "N",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2898,
"cdna_start": 2217,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939882.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2162_2163delACinsCA",
"hgvs_p": "p.Asn721Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609941.1",
"strand": false,
"transcript": "ENST00000939882.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 680,
"aa_ref": "N",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939878.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.1934_1935delACinsCA",
"hgvs_p": "p.Asn645Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609937.1",
"strand": false,
"transcript": "ENST00000939878.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 657,
"aa_ref": "N",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939879.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.1865_1866delACinsCA",
"hgvs_p": "p.Asn622Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609938.1",
"strand": false,
"transcript": "ENST00000939879.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 656,
"aa_ref": "N",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1925,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1862,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946802.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.1862_1863delACinsCA",
"hgvs_p": "p.Asn621Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616861.1",
"strand": false,
"transcript": "ENST00000946802.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 643,
"aa_ref": "N",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1823,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860059.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.1823_1824delACinsCA",
"hgvs_p": "p.Asn608Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530118.1",
"strand": false,
"transcript": "ENST00000860059.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 635,
"aa_ref": "N",
"aa_start": 600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 2521,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1799,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366373.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.1799_1800delACinsCA",
"hgvs_p": "p.Asn600Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353302.1",
"strand": false,
"transcript": "NM_001366373.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 610,
"aa_ref": "N",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1724,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939883.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.1724_1725delACinsCA",
"hgvs_p": "p.Asn575Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609942.1",
"strand": false,
"transcript": "ENST00000939883.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 605,
"aa_ref": "N",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1709,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366374.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.1709_1710delACinsCA",
"hgvs_p": "p.Asn570Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353303.1",
"strand": false,
"transcript": "NM_001366374.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 527,
"aa_ref": "N",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366375.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.1475_1476delACinsCA",
"hgvs_p": "p.Asn492Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353304.1",
"strand": false,
"transcript": "NM_001366375.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 527,
"aa_ref": "N",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939875.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.1475_1476delACinsCA",
"hgvs_p": "p.Asn492Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609934.1",
"strand": false,
"transcript": "ENST00000939875.1",
"transcript_support_level": null
},
{
"aa_alt": "HT",
"aa_end": null,
"aa_length": 328,
"aa_ref": "QP",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 955,
"cds_end": null,
"cds_length": 987,
"cds_start": 954,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421471.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.954_955delACinsCA",
"hgvs_p": "p.GlnPro318HisThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407651.1",
"strand": false,
"transcript": "ENST00000421471.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"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_158963.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "n.1995_1996delACinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_158963.2",
"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": 3242,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NR_158964.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "n.2560_2561delACinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_158964.2",
"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": 2920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NR_158965.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "n.2424_2425delACinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_158965.2",
"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": 2882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NR_158966.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "n.2386_2387delACinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_158966.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.838,
"pos": 52264696,
"ref": "GT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001366369.2"
}
]
}