← 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: 4-102634907-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102634907&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MANBA",
"hgnc_id": 6831,
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_005908.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1",
"acmg_score": -4,
"allele_count_reference_population": 208,
"alphamissense_prediction": null,
"alphamissense_score": 0.2349,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Beta-D-mannosidosis,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7362775802612305,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 879,
"aa_ref": "R",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 2640,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_005908.4",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647097.2",
"protein_coding": true,
"protein_id": "NP_005899.3",
"strand": false,
"transcript": "NM_005908.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 879,
"aa_ref": "R",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 2640,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000647097.2",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005908.4",
"protein_coding": true,
"protein_id": "ENSP00000495247.1",
"strand": false,
"transcript": "ENST00000647097.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3342,
"cdna_start": 2523,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2434,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000642252.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2434C>T",
"hgvs_p": "p.Arg812Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495483.1",
"strand": false,
"transcript": "ENST00000642252.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 912,
"aa_ref": "R",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2395,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000954426.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.Arg799Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624485.1",
"strand": false,
"transcript": "ENST00000954426.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2344,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000954430.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.Arg782Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624489.1",
"strand": false,
"transcript": "ENST00000954430.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 886,
"aa_ref": "R",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 2384,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000644159.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494462.1",
"strand": false,
"transcript": "ENST00000644159.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 878,
"aa_ref": "R",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2363,
"cds_end": null,
"cds_length": 2637,
"cds_start": 2293,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000954427.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.Arg765Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624486.1",
"strand": false,
"transcript": "ENST00000954427.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 2511,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921431.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2167C>T",
"hgvs_p": "p.Arg723Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591490.1",
"strand": false,
"transcript": "ENST00000921431.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 824,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 2184,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2131,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921430.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2131C>T",
"hgvs_p": "p.Arg711Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591489.1",
"strand": false,
"transcript": "ENST00000921430.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 822,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 2164,
"cds_end": null,
"cds_length": 2469,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000505239.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427322.1",
"strand": false,
"transcript": "ENST00000505239.1",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2077,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921427.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591486.1",
"strand": false,
"transcript": "ENST00000921427.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 801,
"aa_ref": "R",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000954428.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2062C>T",
"hgvs_p": "p.Arg688Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624487.1",
"strand": false,
"transcript": "ENST00000954428.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 783,
"aa_ref": "R",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 2352,
"cds_start": 2008,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000910543.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2008C>T",
"hgvs_p": "p.Arg670Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580602.1",
"strand": false,
"transcript": "ENST00000910543.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 755,
"aa_ref": "R",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 2268,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000921426.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1924C>T",
"hgvs_p": "p.Arg642Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591485.1",
"strand": false,
"transcript": "ENST00000921426.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 742,
"aa_ref": "R",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954429.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1885C>T",
"hgvs_p": "p.Arg629Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624488.1",
"strand": false,
"transcript": "ENST00000954429.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 631,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000954425.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624484.1",
"strand": false,
"transcript": "ENST00000954425.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 618,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000921429.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591488.1",
"strand": false,
"transcript": "ENST00000921429.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7470,
"cdna_start": 5839,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2221,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047415692.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271648.1",
"strand": false,
"transcript": "XM_047415692.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7348,
"cdna_start": 5717,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2221,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047415693.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271649.1",
"strand": false,
"transcript": "XM_047415693.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047415694.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271650.1",
"strand": false,
"transcript": "XM_047415694.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 774,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": null,
"cds_end": null,
"cds_length": 2325,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910542.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.2015-34C>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580601.1",
"strand": false,
"transcript": "ENST00000910542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 569,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": null,
"cds_end": null,
"cds_length": 1710,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921428.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1486-2626C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591487.1",
"strand": false,
"transcript": "ENST00000921428.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000514430.5",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.6531C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000514430.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000644545.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*936C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493992.1",
"strand": false,
"transcript": "ENST00000644545.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000645348.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1318C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495363.1",
"strand": false,
"transcript": "ENST00000645348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645558.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1273C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496399.1",
"strand": false,
"transcript": "ENST00000645558.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000646311.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1416C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493465.1",
"strand": false,
"transcript": "ENST00000646311.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3356,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000646727.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1150C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493519.1",
"strand": false,
"transcript": "ENST00000646727.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000647129.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1737C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496137.1",
"strand": false,
"transcript": "ENST00000647129.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000644545.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*936C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493992.1",
"strand": false,
"transcript": "ENST00000644545.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000645348.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1318C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495363.1",
"strand": false,
"transcript": "ENST00000645348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645558.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1273C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496399.1",
"strand": false,
"transcript": "ENST00000645558.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000646311.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1416C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493465.1",
"strand": false,
"transcript": "ENST00000646311.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3356,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000646727.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1150C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493519.1",
"strand": false,
"transcript": "ENST00000646727.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000647129.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "n.*1737C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496137.1",
"strand": false,
"transcript": "ENST00000647129.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs147428514",
"effect": "missense_variant",
"frequency_reference_population": 0.00012885671,
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"gnomad_exomes_ac": 167,
"gnomad_exomes_af": 0.000114236,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 41,
"gnomad_genomes_af": 0.000269184,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Beta-D-mannosidosis|not provided|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.925,
"pos": 102634907,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.533,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.10999999940395355,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.11,
"transcript": "NM_005908.4"
}
]
}