← 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: 20-32791673-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32791673&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32791673,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000328111.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "NM_006892.4",
"protein_id": "NP_008823.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 853,
"cds_start": 886,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": "ENST00000328111.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "ENST00000328111.6",
"protein_id": "ENSP00000328547.2",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 853,
"cds_start": 886,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": "NM_006892.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Val308Ile",
"transcript": "ENST00000201963.3",
"protein_id": "ENSP00000201963.3",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 845,
"cds_start": 922,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "ENST00000348286.6",
"protein_id": "ENSP00000337764.2",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 770,
"cds_start": 886,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Val308Ile",
"transcript": "NM_175850.3",
"protein_id": "NP_787046.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 845,
"cds_start": 922,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "NM_175848.2",
"protein_id": "NP_787044.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 833,
"cds_start": 886,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "ENST00000353855.6",
"protein_id": "ENSP00000313397.4",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 833,
"cds_start": 886,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "NM_001424351.1",
"protein_id": "NP_001411280.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 812,
"cds_start": 886,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Val254Ile",
"transcript": "NM_001424352.1",
"protein_id": "NP_001411281.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 811,
"cds_start": 760,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "NM_001424353.1",
"protein_id": "NP_001411282.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 792,
"cds_start": 886,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Val254Ile",
"transcript": "NM_001424354.1",
"protein_id": "NP_001411283.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 791,
"cds_start": 760,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "NM_001424355.1",
"protein_id": "NP_001411284.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 790,
"cds_start": 886,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "ENST00000696232.1",
"protein_id": "ENSP00000512498.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 790,
"cds_start": 886,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Val308Ile",
"transcript": "NM_001424359.1",
"protein_id": "NP_001411288.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 782,
"cds_start": 922,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000696239.1",
"protein_id": "ENSP00000512503.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 780,
"cds_start": 727,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Val254Ile",
"transcript": "NM_001424356.1",
"protein_id": "NP_001411285.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 770,
"cds_start": 760,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "NM_175849.2",
"protein_id": "NP_787045.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 770,
"cds_start": 886,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Val254Ile",
"transcript": "NM_001424357.1",
"protein_id": "NP_001411286.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 750,
"cds_start": 760,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Val254Ile",
"transcript": "NM_001424358.1",
"protein_id": "NP_001411287.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 748,
"cds_start": 760,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Ile",
"transcript": "NM_001424360.1",
"protein_id": "NP_001411289.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 740,
"cds_start": 796,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Val254Ile",
"transcript": "NM_001207055.2",
"protein_id": "NP_001193984.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 728,
"cds_start": 760,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Val254Ile",
"transcript": "ENST00000443239.7",
"protein_id": "ENSP00000403169.2",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 728,
"cds_start": 760,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Val220Ile",
"transcript": "NM_001207056.2",
"protein_id": "NP_001193985.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 694,
"cds_start": 658,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Val220Ile",
"transcript": "ENST00000456297.6",
"protein_id": "ENSP00000412305.1",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 694,
"cds_start": 658,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Val308Ile",
"transcript": "XM_047439946.1",
"protein_id": "XP_047295902.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 865,
"cds_start": 922,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Val308Ile",
"transcript": "XM_047439949.1",
"protein_id": "XP_047295905.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 804,
"cds_start": 922,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Ile",
"transcript": "XM_047439950.1",
"protein_id": "XP_047295906.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 803,
"cds_start": 796,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Ile",
"transcript": "XM_047439955.1",
"protein_id": "XP_047295911.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 762,
"cds_start": 796,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Ile",
"transcript": "XM_047439956.1",
"protein_id": "XP_047295912.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 760,
"cds_start": 796,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Val308Ile",
"transcript": "XM_047439959.1",
"protein_id": "XP_047295915.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 532,
"cds_start": 922,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Ile",
"transcript": "XM_047439960.1",
"protein_id": "XP_047295916.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 490,
"cds_start": 796,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.886G>A",
"hgvs_p": null,
"transcript": "ENST00000696231.1",
"protein_id": "ENSP00000512497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.886G>A",
"hgvs_p": null,
"transcript": "ENST00000696233.1",
"protein_id": "ENSP00000512499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.870G>A",
"hgvs_p": null,
"transcript": "ENST00000696234.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.760G>A",
"hgvs_p": null,
"transcript": "ENST00000696235.1",
"protein_id": "ENSP00000512500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.760G>A",
"hgvs_p": null,
"transcript": "ENST00000696236.1",
"protein_id": "ENSP00000512501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.886G>A",
"hgvs_p": null,
"transcript": "ENST00000696238.1",
"protein_id": "ENSP00000512502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.188G>A",
"hgvs_p": null,
"transcript": "ENST00000696240.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"dbsnp": "rs145632647",
"frequency_reference_population": 0.0003537584,
"hom_count_reference_population": 4,
"allele_count_reference_population": 571,
"gnomad_exomes_af": 0.000302367,
"gnomad_genomes_af": 0.000847024,
"gnomad_exomes_ac": 442,
"gnomad_genomes_ac": 129,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008820652961730957,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.1305,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.425,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000328111.6",
"gene_symbol": "DNMT3B",
"hgnc_id": 2979,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile"
}
],
"clinvar_disease": " digenic,9 and 16 and immunodeficiency,Centromeric instability of chromosomes 1,Facioscapulohumeral muscular dystrophy 4,Immunodeficiency-centromeric instability-facial anomalies syndrome 1,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "not provided|Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency|Immunodeficiency-centromeric instability-facial anomalies syndrome 1|Immunodeficiency-centromeric instability-facial anomalies syndrome 1;Facioscapulohumeral muscular dystrophy 4, digenic",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}