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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: 2-25234299-C-CCTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=25234299&ref=C&alt=CCTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 25234299,
"ref": "C",
"alt": "CCTT",
"effect": "conservative_inframe_insertion",
"transcript": "NM_022552.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2716_2718dupAAG",
"hgvs_p": "p.Lys906dup",
"transcript": "NM_022552.5",
"protein_id": "NP_072046.2",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 912,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 9421,
"mane_select": "ENST00000321117.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2716_2718dupAAG",
"hgvs_p": "p.Lys906dup",
"transcript": "ENST00000321117.10",
"protein_id": "ENSP00000324375.5",
"transcript_support_level": 1,
"aa_start": 906,
"aa_end": null,
"aa_length": 912,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 9421,
"mane_select": "NM_022552.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2716_2718dupAAG",
"hgvs_p": "p.Lys906dup",
"transcript": "ENST00000264709.7",
"protein_id": "ENSP00000264709.3",
"transcript_support_level": 1,
"aa_start": 906,
"aa_end": null,
"aa_length": 912,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 9501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2149_2151dupAAG",
"hgvs_p": "p.Lys717dup",
"transcript": "ENST00000380746.8",
"protein_id": "ENSP00000370122.4",
"transcript_support_level": 1,
"aa_start": 717,
"aa_end": null,
"aa_length": 723,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2265,
"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": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.*569_*571dupAAG",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.*569_*571dupAAG",
"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": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2716_2718dupAAG",
"hgvs_p": "p.Lys906dup",
"transcript": "NM_175629.2",
"protein_id": "NP_783328.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 912,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2260_2262dupAAG",
"hgvs_p": "p.Lys754dup",
"transcript": "NM_001320893.1",
"protein_id": "NP_001307822.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 760,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2149_2151dupAAG",
"hgvs_p": "p.Lys717dup",
"transcript": "NM_153759.3",
"protein_id": "NP_715640.2",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 723,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2047_2049dupAAG",
"hgvs_p": "p.Lys683dup",
"transcript": "NM_001375819.1",
"protein_id": "NP_001362748.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 689,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2047_2049dupAAG",
"hgvs_p": "p.Lys683dup",
"transcript": "ENST00000402667.1",
"protein_id": "ENSP00000384237.1",
"transcript_support_level": 5,
"aa_start": 683,
"aa_end": null,
"aa_length": 689,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2047_2049dupAAG",
"hgvs_p": "p.Lys683dup",
"transcript": "ENST00000683760.1",
"protein_id": "ENSP00000507765.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 689,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2716_2718dupAAG",
"hgvs_p": "p.Lys906dup",
"transcript": "XM_005264175.6",
"protein_id": "XP_005264232.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 912,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 5253,
"cdna_end": null,
"cdna_length": 11679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2716_2718dupAAG",
"hgvs_p": "p.Lys906dup",
"transcript": "XM_017003526.2",
"protein_id": "XP_016859015.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 912,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3045,
"cdna_end": null,
"cdna_length": 9471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2569_2571dupAAG",
"hgvs_p": "p.Lys857dup",
"transcript": "XM_011532662.3",
"protein_id": "XP_011530964.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 863,
"cds_start": 2571,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 3823,
"cdna_end": null,
"cdna_length": 10249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2419_2421dupAAG",
"hgvs_p": "p.Lys807dup",
"transcript": "XM_047443592.1",
"protein_id": "XP_047299548.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 813,
"cds_start": 2421,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 8947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2236_2238dupAAG",
"hgvs_p": "p.Lys746dup",
"transcript": "XM_047443594.1",
"protein_id": "XP_047299550.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 752,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 8971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2188_2190dupAAG",
"hgvs_p": "p.Lys730dup",
"transcript": "XM_011532666.3",
"protein_id": "XP_011530968.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 736,
"cds_start": 2190,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 8734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2047_2049dupAAG",
"hgvs_p": "p.Lys683dup",
"transcript": "XM_011532667.4",
"protein_id": "XP_011530969.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 689,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 8567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2047_2049dupAAG",
"hgvs_p": "p.Lys683dup",
"transcript": "XM_017003527.2",
"protein_id": "XP_016859016.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 689,
"cds_start": 2049,
"cds_end": null,
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"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 8675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2047_2049dupAAG",
"hgvs_p": "p.Lys683dup",
"transcript": "XM_047443596.1",
"protein_id": "XP_047299552.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 689,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 8793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2047_2049dupAAG",
"hgvs_p": "p.Lys683dup",
"transcript": "XM_047443597.1",
"protein_id": "XP_047299553.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 689,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 8832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "KK",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "c.2047_2049dupAAG",
"hgvs_p": "p.Lys683dup",
"transcript": "XM_047443598.1",
"protein_id": "XP_047299554.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 689,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2483,
"cdna_end": null,
"cdna_length": 8909,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.*225_*227dupAAG",
"hgvs_p": null,
"transcript": "ENST00000474887.6",
"protein_id": "ENSP00000509807.1",
"transcript_support_level": 3,
"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": 988,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.*1541_*1543dupAAG",
"hgvs_p": null,
"transcript": "ENST00000683393.1",
"protein_id": "ENSP00000508654.1",
"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": 3149,
"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": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.3146_3148dupAAG",
"hgvs_p": null,
"transcript": "NR_135490.2",
"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": 9574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.*225_*227dupAAG",
"hgvs_p": null,
"transcript": "ENST00000474887.6",
"protein_id": "ENSP00000509807.1",
"transcript_support_level": 3,
"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": 988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"hgvs_c": "n.*1541_*1543dupAAG",
"hgvs_p": null,
"transcript": "ENST00000683393.1",
"protein_id": "ENSP00000508654.1",
"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": 3149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNMT3A",
"gene_hgnc_id": 2978,
"dbsnp": "rs769590067",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.889,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022552.5",
"gene_symbol": "DNMT3A",
"hgnc_id": 2978,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2716_2718dupAAG",
"hgvs_p": "p.Lys906dup"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}