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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: 2-25248133-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=25248133&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 25248133,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000321117.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "NM_022552.5",
"protein_id": "NP_072046.2",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 912,
"cds_start": 759,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 9421,
"mane_select": "ENST00000321117.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "ENST00000321117.10",
"protein_id": "ENSP00000324375.5",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 912,
"cds_start": 759,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 9421,
"mane_select": "NM_022552.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "ENST00000264709.7",
"protein_id": "ENSP00000264709.3",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 912,
"cds_start": 759,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 9501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Pro64Pro",
"transcript": "ENST00000380746.8",
"protein_id": "ENSP00000370122.4",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 723,
"cds_start": 192,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.759C>T",
"hgvs_p": null,
"transcript": "ENST00000380756.7",
"protein_id": "ENSP00000370132.3",
"transcript_support_level": 1,
"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": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "NM_175629.2",
"protein_id": "NP_783328.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 912,
"cds_start": 759,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Pro101Pro",
"transcript": "NM_001320893.1",
"protein_id": "NP_001307822.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 760,
"cds_start": 303,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Pro64Pro",
"transcript": "NM_153759.3",
"protein_id": "NP_715640.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 723,
"cds_start": 192,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Pro30Pro",
"transcript": "NM_001375819.1",
"protein_id": "NP_001362748.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 689,
"cds_start": 90,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Pro30Pro",
"transcript": "ENST00000402667.1",
"protein_id": "ENSP00000384237.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 689,
"cds_start": 90,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Pro30Pro",
"transcript": "ENST00000683760.1",
"protein_id": "ENSP00000507765.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 689,
"cds_start": 90,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Pro68Pro",
"transcript": "ENST00000470983.5",
"protein_id": "ENSP00000508911.1",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 194,
"cds_start": 204,
"cds_end": null,
"cds_length": 587,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "XM_005264175.6",
"protein_id": "XP_005264232.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 912,
"cds_start": 759,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3294,
"cdna_end": null,
"cdna_length": 11679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "XM_017003526.2",
"protein_id": "XP_016859015.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 912,
"cds_start": 759,
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"cds_length": 2739,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 9471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Pro204Pro",
"transcript": "XM_011532662.3",
"protein_id": "XP_011530964.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 863,
"cds_start": 612,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 10249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.462C>T",
"hgvs_p": "p.Pro154Pro",
"transcript": "XM_047443592.1",
"protein_id": "XP_047299548.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 813,
"cds_start": 462,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 8947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "XM_047443593.1",
"protein_id": "XP_047299549.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 806,
"cds_start": 759,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "XM_011532664.3",
"protein_id": "XP_011530966.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 781,
"cds_start": 759,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.279C>T",
"hgvs_p": "p.Pro93Pro",
"transcript": "XM_047443594.1",
"protein_id": "XP_047299550.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 752,
"cds_start": 279,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 586,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Pro77Pro",
"transcript": "XM_011532666.3",
"protein_id": "XP_011530968.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 736,
"cds_start": 231,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 8734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Pro30Pro",
"transcript": "XM_011532667.4",
"protein_id": "XP_011530969.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 689,
"cds_start": 90,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 8567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Pro30Pro",
"transcript": "XM_017003527.2",
"protein_id": "XP_016859016.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 689,
"cds_start": 90,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 8675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Pro30Pro",
"transcript": "XM_047443596.1",
"protein_id": "XP_047299552.1",
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"cdna_start": 408,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 19,
"intron_rank": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
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"hgvs_c": "c.90C>T",
"hgvs_p": "p.Pro30Pro",
"transcript": "XM_047443598.1",
"protein_id": "XP_047299554.1",
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"aa_start": 30,
"aa_end": null,
"aa_length": 689,
"cds_start": 90,
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"cds_length": 2070,
"cdna_start": 524,
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"cdna_length": 8909,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "DNMT3A",
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"hgvs_c": "c.90C>T",
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"transcript": "XM_047443599.1",
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"cdna_length": 2092,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.990C>T",
"hgvs_p": null,
"transcript": "NR_135490.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 9574,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.-234C>T",
"hgvs_p": null,
"transcript": "ENST00000474807.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"dbsnp": "rs77558739",
"frequency_reference_population": 0.0012889552,
"hom_count_reference_population": 23,
"allele_count_reference_population": 2080,
"gnomad_exomes_af": 0.000691123,
"gnomad_genomes_af": 0.00702468,
"gnomad_exomes_ac": 1010,
"gnomad_genomes_ac": 1070,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.841,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000321117.10",
"gene_symbol": "DNMT3A",
"hgnc_id": 2978,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro"
}
],
"clinvar_disease": "DNMT3A-related disorder,Inborn genetic diseases,Tatton-Brown-Rahman overgrowth syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "Tatton-Brown-Rahman overgrowth syndrome|not specified|not provided|Inborn genetic diseases|DNMT3A-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}