← 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: 13-113014845-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113014845&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113014845,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001438390.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Ser54Ser",
"transcript": "NM_001112732.3",
"protein_id": "NP_001106203.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1125,
"cds_start": 162,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000535094.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001112732.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Ser54Ser",
"transcript": "ENST00000535094.7",
"protein_id": "ENSP00000440374.2",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 1125,
"cds_start": 162,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001112732.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535094.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Ser58Ser",
"transcript": "ENST00000421756.5",
"protein_id": "ENSP00000397285.1",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 1067,
"cds_start": 174,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421756.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.156C>T",
"hgvs_p": "p.Ser52Ser",
"transcript": "ENST00000375597.8",
"protein_id": "ENSP00000364747.4",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 984,
"cds_start": 156,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375597.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Ser87Ser",
"transcript": "NM_001438390.1",
"protein_id": "NP_001425319.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1214,
"cds_start": 261,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438390.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.252C>T",
"hgvs_p": "p.Ser84Ser",
"transcript": "NM_001438391.1",
"protein_id": "NP_001425320.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 1211,
"cds_start": 252,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438391.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Ser54Ser",
"transcript": "ENST00000884942.1",
"protein_id": "ENSP00000555001.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1203,
"cds_start": 162,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884942.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Ser54Ser",
"transcript": "ENST00000884941.1",
"protein_id": "ENSP00000555000.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1197,
"cds_start": 162,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884941.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Ser54Ser",
"transcript": "ENST00000884943.1",
"protein_id": "ENSP00000555002.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1195,
"cds_start": 162,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884943.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Ser87Ser",
"transcript": "NM_001438759.1",
"protein_id": "NP_001425688.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1183,
"cds_start": 261,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438759.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Ser54Ser",
"transcript": "NM_001437889.1",
"protein_id": "NP_001424818.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1181,
"cds_start": 162,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437889.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Ser54Ser",
"transcript": "ENST00000453297.6",
"protein_id": "ENSP00000392953.2",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 1181,
"cds_start": 162,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453297.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.252C>T",
"hgvs_p": "p.Ser84Ser",
"transcript": "NM_001438392.1",
"protein_id": "NP_001425321.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 1180,
"cds_start": 252,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438392.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.156C>T",
"hgvs_p": "p.Ser52Ser",
"transcript": "NM_001438760.1",
"protein_id": "NP_001425689.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1179,
"cds_start": 156,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438760.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001438761.1",
"protein_id": "NP_001425690.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1163,
"cds_start": 108,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438761.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Ser87Ser",
"transcript": "NM_001438762.1",
"protein_id": "NP_001425691.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1158,
"cds_start": 261,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438762.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.252C>T",
"hgvs_p": "p.Ser84Ser",
"transcript": "NM_001438393.1",
"protein_id": "NP_001425322.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 1155,
"cds_start": 252,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438393.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Ser54Ser",
"transcript": "NM_001438763.1",
"protein_id": "NP_001425692.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1150,
"cds_start": 162,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438763.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.156C>T",
"hgvs_p": "p.Ser52Ser",
"transcript": "NM_001320815.2",
"protein_id": "NP_001307744.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1148,
"cds_start": 156,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320815.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ser45Ser",
"transcript": "ENST00000420013.6",
"protein_id": "ENSP00000404422.2",
"transcript_support_level": 4,
"aa_start": 45,
"aa_end": null,
"aa_length": 1141,
"cds_start": 135,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420013.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Ser54Ser",
"transcript": "ENST00000920919.1",
"protein_id": "ENSP00000590978.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1140,
"cds_start": 162,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920919.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.252C>T",
"hgvs_p": "p.Ser84Ser",
"transcript": "ENST00000375608.7",
"protein_id": "ENSP00000364758.3",
"transcript_support_level": 5,
"aa_start": 84,
"aa_end": null,
"aa_length": 1137,
"cds_start": 252,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375608.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.180C>T",
"hgvs_p": "p.Ser60Ser",
"transcript": "NM_001438764.1",
"protein_id": "NP_001425693.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1131,
"cds_start": 180,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438764.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Ser58Ser",
"transcript": "NM_001320816.2",
"protein_id": "NP_001307745.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 1129,
"cds_start": 174,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320816.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.156C>T",
"hgvs_p": "p.Ser52Ser",
"transcript": "NM_024979.5",
"protein_id": "NP_079255.4",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 1123,
"cds_start": 156,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024979.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.156C>T",
"hgvs_p": "p.Ser52Ser",
"transcript": "ENST00000375604.6",
"protein_id": "ENSP00000364754.3",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 1123,
"cds_start": 156,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375604.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.75C>T",
"hgvs_p": "p.Ser25Ser",
"transcript": "NM_001366644.2",
"protein_id": "NP_001353573.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1096,
"cds_start": 75,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366644.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Ser87Ser",
"transcript": "ENST00000397030.5",
"protein_id": "ENSP00000380225.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 1096,
"cds_start": 261,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397030.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.156C>T",
"hgvs_p": "p.Ser52Ser",
"transcript": "NM_001320817.2",
"protein_id": "NP_001307746.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 984,
"cds_start": 156,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320817.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.156C>T",
"hgvs_p": "p.Ser52Ser",
"transcript": "ENST00000397024.1",
"protein_id": "ENSP00000380219.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 156,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397024.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.75C>T",
"hgvs_p": "p.Ser25Ser",
"transcript": "ENST00000409954.6",
"protein_id": "ENSP00000386551.2",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 135,
"cds_start": 75,
"cds_end": null,
"cds_length": 410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409954.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.180C>T",
"hgvs_p": "p.Ser60Ser",
"transcript": "ENST00000433807.5",
"protein_id": "ENSP00000395707.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 96,
"cds_start": 180,
"cds_end": null,
"cds_length": 292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433807.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.252C>T",
"hgvs_p": "p.Ser84Ser",
"transcript": "XM_011537483.3",
"protein_id": "XP_011535785.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 1211,
"cds_start": 252,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537483.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.180C>T",
"hgvs_p": "p.Ser60Ser",
"transcript": "XM_017020494.2",
"protein_id": "XP_016875983.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1187,
"cds_start": 180,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020494.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Ser58Ser",
"transcript": "XM_011537484.2",
"protein_id": "XP_011535786.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 1185,
"cds_start": 174,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537484.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.252C>T",
"hgvs_p": "p.Ser84Ser",
"transcript": "XM_047430222.1",
"protein_id": "XP_047286178.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 1155,
"cds_start": 252,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430222.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.75C>T",
"hgvs_p": "p.Ser25Ser",
"transcript": "XM_011537490.2",
"protein_id": "XP_011535792.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1152,
"cds_start": 75,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537490.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Ser87Ser",
"transcript": "XM_017020499.3",
"protein_id": "XP_016875988.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1019,
"cds_start": 261,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020499.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.252C>T",
"hgvs_p": "p.Ser84Ser",
"transcript": "XM_047430226.1",
"protein_id": "XP_047286182.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 1016,
"cds_start": 252,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "n.282C>T",
"hgvs_p": null,
"transcript": "ENST00000486210.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000486210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "n.135C>T",
"hgvs_p": null,
"transcript": "ENST00000704386.1",
"protein_id": "ENSP00000515888.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000704386.1"
}
],
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"dbsnp": "rs149468042",
"frequency_reference_population": 0.00033976152,
"hom_count_reference_population": 5,
"allele_count_reference_population": 548,
"gnomad_exomes_af": 0.00022388,
"gnomad_genomes_af": 0.00145118,
"gnomad_exomes_ac": 327,
"gnomad_genomes_ac": 221,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.04800000041723251,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.174,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000287409904073668,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001438390.1",
"gene_symbol": "MCF2L",
"hgnc_id": 14576,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Ser87Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}