← 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: 15-75358495-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75358495&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75358495,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001256494.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "NM_006715.4",
"protein_id": "NP_006706.2",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267978.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006715.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000267978.10",
"protein_id": "ENSP00000267978.4",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006715.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267978.10"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2421C>G",
"hgvs_p": "p.Asp807Glu",
"transcript": "ENST00000565683.5",
"protein_id": "ENSP00000457788.1",
"transcript_support_level": 1,
"aa_start": 807,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565683.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000569482.5",
"protein_id": "ENSP00000455998.1",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569482.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2073C>G",
"hgvs_p": "p.Asp691Glu",
"transcript": "ENST00000563622.5",
"protein_id": "ENSP00000454589.1",
"transcript_support_level": 1,
"aa_start": 691,
"aa_end": null,
"aa_length": 941,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563622.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.2601C>G",
"hgvs_p": null,
"transcript": "ENST00000563441.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000563441.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2472C>G",
"hgvs_p": "p.Asp824Glu",
"transcript": "ENST00000854693.1",
"protein_id": "ENSP00000524752.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2472,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854693.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2448C>G",
"hgvs_p": "p.Asp816Glu",
"transcript": "ENST00000854682.1",
"protein_id": "ENSP00000524741.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2448,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854682.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2421C>G",
"hgvs_p": "p.Asp807Glu",
"transcript": "ENST00000964304.1",
"protein_id": "ENSP00000634363.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964304.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2409C>G",
"hgvs_p": "p.Asp803Glu",
"transcript": "ENST00000964320.1",
"protein_id": "ENSP00000634379.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2409,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964320.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000854686.1",
"protein_id": "ENSP00000524745.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854686.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2424C>G",
"hgvs_p": "p.Asp808Glu",
"transcript": "ENST00000854698.1",
"protein_id": "ENSP00000524757.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2424,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854698.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2421C>G",
"hgvs_p": "p.Asp807Glu",
"transcript": "NM_001256494.2",
"protein_id": "NP_001243423.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256494.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2412C>G",
"hgvs_p": "p.Asp804Glu",
"transcript": "ENST00000964318.1",
"protein_id": "ENSP00000634377.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2412,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964318.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2409C>G",
"hgvs_p": "p.Asp803Glu",
"transcript": "ENST00000854704.1",
"protein_id": "ENSP00000524763.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2409,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854704.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000854697.1",
"protein_id": "ENSP00000524756.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854697.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000854695.1",
"protein_id": "ENSP00000524754.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854695.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2400C>G",
"hgvs_p": "p.Asp800Glu",
"transcript": "ENST00000854702.1",
"protein_id": "ENSP00000524761.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2400,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854702.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000854684.1",
"protein_id": "ENSP00000524743.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854684.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2385C>G",
"hgvs_p": "p.Asp795Glu",
"transcript": "ENST00000854700.1",
"protein_id": "ENSP00000524759.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2385,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854700.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2349C>G",
"hgvs_p": "p.Asp783Glu",
"transcript": "ENST00000854706.1",
"protein_id": "ENSP00000524765.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2349,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854706.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2448C>G",
"hgvs_p": "p.Asp816Glu",
"transcript": "ENST00000854701.1",
"protein_id": "ENSP00000524760.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2448,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854701.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2349C>G",
"hgvs_p": "p.Asp783Glu",
"transcript": "ENST00000964317.1",
"protein_id": "ENSP00000634376.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2349,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964317.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2355C>G",
"hgvs_p": "p.Asp785Glu",
"transcript": "ENST00000854687.1",
"protein_id": "ENSP00000524746.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2355,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854687.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2421C>G",
"hgvs_p": "p.Asp807Glu",
"transcript": "ENST00000854691.1",
"protein_id": "ENSP00000524750.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854691.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2349C>G",
"hgvs_p": "p.Asp783Glu",
"transcript": "ENST00000964308.1",
"protein_id": "ENSP00000634367.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2349,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964308.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2340C>G",
"hgvs_p": "p.Asp780Glu",
"transcript": "ENST00000854696.1",
"protein_id": "ENSP00000524755.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2340,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854696.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000854694.1",
"protein_id": "ENSP00000524753.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854694.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2400C>G",
"hgvs_p": "p.Asp800Glu",
"transcript": "ENST00000964322.1",
"protein_id": "ENSP00000634381.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2400,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964322.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2325C>G",
"hgvs_p": "p.Asp775Glu",
"transcript": "ENST00000964316.1",
"protein_id": "ENSP00000634375.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2325,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964316.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2310C>G",
"hgvs_p": "p.Asp770Glu",
"transcript": "ENST00000854681.1",
"protein_id": "ENSP00000524740.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2310,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854681.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2379C>G",
"hgvs_p": "p.Asp793Glu",
"transcript": "ENST00000964315.1",
"protein_id": "ENSP00000634374.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2379,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964315.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "NM_001256495.2",
"protein_id": "NP_001243424.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256495.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2301C>G",
"hgvs_p": "p.Asp767Glu",
"transcript": "ENST00000964319.1",
"protein_id": "ENSP00000634378.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2301,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964319.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2301C>G",
"hgvs_p": "p.Asp767Glu",
"transcript": "ENST00000964323.1",
"protein_id": "ENSP00000634382.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2301,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964323.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2364C>G",
"hgvs_p": "p.Asp788Glu",
"transcript": "ENST00000964303.1",
"protein_id": "ENSP00000634362.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2364,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964303.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2349C>G",
"hgvs_p": "p.Asp783Glu",
"transcript": "ENST00000854703.1",
"protein_id": "ENSP00000524762.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2349,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854703.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000964307.1",
"protein_id": "ENSP00000634366.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964307.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2310C>G",
"hgvs_p": "p.Asp770Glu",
"transcript": "ENST00000964313.1",
"protein_id": "ENSP00000634372.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 997,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964313.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2301C>G",
"hgvs_p": "p.Asp767Glu",
"transcript": "ENST00000964314.1",
"protein_id": "ENSP00000634373.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 994,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964314.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000854688.1",
"protein_id": "ENSP00000524747.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 992,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854688.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2196C>G",
"hgvs_p": "p.Asp732Glu",
"transcript": "ENST00000964306.1",
"protein_id": "ENSP00000634365.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 982,
"cds_start": 2196,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964306.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Asp790Glu",
"transcript": "ENST00000912258.1",
"protein_id": "ENSP00000582317.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 969,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912258.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2154C>G",
"hgvs_p": "p.Asp718Glu",
"transcript": "ENST00000854708.1",
"protein_id": "ENSP00000524767.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 968,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854708.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2073C>G",
"hgvs_p": "p.Asp691Glu",
"transcript": "ENST00000854692.1",
"protein_id": "ENSP00000524751.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 960,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854692.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2124C>G",
"hgvs_p": "p.Asp708Glu",
"transcript": "ENST00000964310.1",
"protein_id": "ENSP00000634369.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 958,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964310.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2073C>G",
"hgvs_p": "p.Asp691Glu",
"transcript": "ENST00000964309.1",
"protein_id": "ENSP00000634368.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 949,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964309.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2073C>G",
"hgvs_p": "p.Asp691Glu",
"transcript": "NM_001256496.2",
"protein_id": "NP_001243425.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 941,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256496.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2055C>G",
"hgvs_p": "p.Asp685Glu",
"transcript": "ENST00000854689.1",
"protein_id": "ENSP00000524748.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 935,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854689.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2052C>G",
"hgvs_p": "p.Asp684Glu",
"transcript": "ENST00000964311.1",
"protein_id": "ENSP00000634370.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 934,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964311.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2073C>G",
"hgvs_p": "p.Asp691Glu",
"transcript": "ENST00000854680.1",
"protein_id": "ENSP00000524739.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 918,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854680.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.1827C>G",
"hgvs_p": "p.Asp609Glu",
"transcript": "ENST00000964312.1",
"protein_id": "ENSP00000634371.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 859,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964312.1"
},
{
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2439+9C>G",
"hgvs_p": null,
"transcript": "ENST00000854683.1",
"protein_id": "ENSP00000524742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1052,
"cds_start": null,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854683.1"
},
{
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2358+12C>G",
"hgvs_p": null,
"transcript": "ENST00000854679.1",
"protein_id": "ENSP00000524738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1033,
"cds_start": null,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854679.1"
},
{
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2361+9C>G",
"hgvs_p": null,
"transcript": "ENST00000854705.1",
"protein_id": "ENSP00000524764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": null,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854705.1"
},
{
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2358+12C>G",
"hgvs_p": null,
"transcript": "ENST00000854685.1",
"protein_id": "ENSP00000524744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": null,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854685.1"
},
{
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2343+12C>G",
"hgvs_p": null,
"transcript": "ENST00000854707.1",
"protein_id": "ENSP00000524766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1020,
"cds_start": null,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854707.1"
},
{
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2337+12C>G",
"hgvs_p": null,
"transcript": "ENST00000964321.1",
"protein_id": "ENSP00000634380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1018,
"cds_start": null,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964321.1"
},
{
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2358+12C>G",
"hgvs_p": null,
"transcript": "ENST00000854690.1",
"protein_id": "ENSP00000524749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": null,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854690.1"
},
{
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2337+12C>G",
"hgvs_p": null,
"transcript": "ENST00000854699.1",
"protein_id": "ENSP00000524758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 995,
"cds_start": null,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854699.1"
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.1815+12C>G",
"hgvs_p": null,
"transcript": "ENST00000964305.1",
"protein_id": "ENSP00000634364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 844,
"cds_start": null,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964305.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.720C>G",
"hgvs_p": null,
"transcript": "ENST00000563368.5",
"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": "ENST00000563368.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.436C>G",
"hgvs_p": null,
"transcript": "ENST00000564570.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000564570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.4060C>G",
"hgvs_p": null,
"transcript": "ENST00000564785.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000564785.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.356C>G",
"hgvs_p": null,
"transcript": "ENST00000566099.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000566099.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.838C>G",
"hgvs_p": null,
"transcript": "ENST00000567163.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000567163.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.125C>G",
"hgvs_p": null,
"transcript": "ENST00000567360.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000567360.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.933C>G",
"hgvs_p": null,
"transcript": "ENST00000569176.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000569176.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "n.*148C>G",
"hgvs_p": null,
"transcript": "ENST00000566013.5",
"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": "ENST00000566013.5"
}
],
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"dbsnp": "rs1128933",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48382270336151123,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4399999976158142,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.502,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6902,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.041,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.44,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001256494.2",
"gene_symbol": "MAN2C1",
"hgnc_id": 6827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2421C>G",
"hgvs_p": "p.Asp807Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}