← 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: 6-52269153-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52269153&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 52269153,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001366369.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Ser634Asn",
"transcript": "NM_002388.6",
"protein_id": "NP_002379.4",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 808,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000596288.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002388.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Ser634Asn",
"transcript": "ENST00000596288.7",
"protein_id": "ENSP00000472940.2",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 808,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002388.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596288.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Ser679Asn",
"transcript": "ENST00000616552.4",
"protein_id": "ENSP00000480987.1",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 853,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616552.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1931G>A",
"hgvs_p": "p.Ser644Asn",
"transcript": "ENST00000229854.12",
"protein_id": "ENSP00000229854.6",
"transcript_support_level": 1,
"aa_start": 644,
"aa_end": null,
"aa_length": 818,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229854.12"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1994G>A",
"hgvs_p": "p.Ser665Asn",
"transcript": "ENST00000860054.1",
"protein_id": "ENSP00000530113.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 839,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860054.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Ser634Asn",
"transcript": "ENST00000860058.1",
"protein_id": "ENSP00000530117.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 839,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860058.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Ser660Asn",
"transcript": "ENST00000939873.1",
"protein_id": "ENSP00000609932.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 834,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939873.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Ser634Asn",
"transcript": "NM_001366369.2",
"protein_id": "NP_001353298.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 833,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366369.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1952G>A",
"hgvs_p": "p.Ser651Asn",
"transcript": "NM_001366370.2",
"protein_id": "NP_001353299.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 825,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366370.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1952G>A",
"hgvs_p": "p.Ser651Asn",
"transcript": "ENST00000860060.1",
"protein_id": "ENSP00000530119.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 825,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860060.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1940G>A",
"hgvs_p": "p.Ser647Asn",
"transcript": "ENST00000939874.1",
"protein_id": "ENSP00000609933.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 821,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939874.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1850G>A",
"hgvs_p": "p.Ser617Asn",
"transcript": "NM_001366371.2",
"protein_id": "NP_001353300.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 816,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366371.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Ser634Asn",
"transcript": "ENST00000860057.1",
"protein_id": "ENSP00000530116.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 807,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860057.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Ser633Asn",
"transcript": "ENST00000939871.1",
"protein_id": "ENSP00000609930.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 807,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939871.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Ser633Asn",
"transcript": "ENST00000939872.1",
"protein_id": "ENSP00000609931.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 807,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939872.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Ser634Asn",
"transcript": "ENST00000939876.1",
"protein_id": "ENSP00000609935.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 803,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939876.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1859G>A",
"hgvs_p": "p.Ser620Asn",
"transcript": "ENST00000939881.1",
"protein_id": "ENSP00000609940.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 794,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939881.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1850G>A",
"hgvs_p": "p.Ser617Asn",
"transcript": "NM_001366372.2",
"protein_id": "NP_001353301.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 791,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366372.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1850G>A",
"hgvs_p": "p.Ser617Asn",
"transcript": "ENST00000860056.1",
"protein_id": "ENSP00000530115.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 791,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860056.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1772G>A",
"hgvs_p": "p.Ser591Asn",
"transcript": "ENST00000860055.1",
"protein_id": "ENSP00000530114.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 765,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860055.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1769G>A",
"hgvs_p": "p.Ser590Asn",
"transcript": "ENST00000939880.1",
"protein_id": "ENSP00000609939.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 764,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939880.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Ser588Asn",
"transcript": "NM_001270472.3",
"protein_id": "NP_001257401.2",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 762,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270472.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Ser588Asn",
"transcript": "ENST00000419835.8",
"protein_id": "ENSP00000388647.4",
"transcript_support_level": 2,
"aa_start": 588,
"aa_end": null,
"aa_length": 762,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419835.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Ser634Asn",
"transcript": "ENST00000939882.1",
"protein_id": "ENSP00000609941.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 756,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939882.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1517G>A",
"hgvs_p": "p.Ser506Asn",
"transcript": "ENST00000939878.1",
"protein_id": "ENSP00000609937.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 680,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939878.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Ser483Asn",
"transcript": "ENST00000939879.1",
"protein_id": "ENSP00000609938.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 657,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939879.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Ser483Asn",
"transcript": "ENST00000946802.1",
"protein_id": "ENSP00000616861.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 656,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946802.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1406G>A",
"hgvs_p": "p.Ser469Asn",
"transcript": "ENST00000860059.1",
"protein_id": "ENSP00000530118.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 643,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860059.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1382G>A",
"hgvs_p": "p.Ser461Asn",
"transcript": "NM_001366373.2",
"protein_id": "NP_001353302.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 635,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366373.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "NM_001366374.2",
"protein_id": "NP_001353303.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 605,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366374.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Ser353Asn",
"transcript": "NM_001366375.2",
"protein_id": "NP_001353304.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 527,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366375.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Ser353Asn",
"transcript": "ENST00000939875.1",
"protein_id": "ENSP00000609934.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 527,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939875.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Ser129Asn",
"transcript": "ENST00000421471.1",
"protein_id": "ENSP00000407651.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 328,
"cds_start": 386,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1828-1185G>A",
"hgvs_p": null,
"transcript": "ENST00000939877.1",
"protein_id": "ENSP00000609936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": null,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939877.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1375-1185G>A",
"hgvs_p": null,
"transcript": "ENST00000939883.1",
"protein_id": "ENSP00000609942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": null,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "n.1578G>A",
"hgvs_p": null,
"transcript": "NR_158963.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158963.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "n.1969G>A",
"hgvs_p": null,
"transcript": "NR_158964.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158964.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "n.1969G>A",
"hgvs_p": null,
"transcript": "NR_158965.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158965.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "n.1969G>A",
"hgvs_p": null,
"transcript": "NR_158966.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158966.2"
}
],
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"dbsnp": "rs768262054",
"frequency_reference_population": 0.000002736476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273648,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36726951599121094,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.3212,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.899,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001366369.2",
"gene_symbol": "MCM3",
"hgnc_id": 6945,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Ser634Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}