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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: 6-18237407-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=18237407&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 18237407,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003472.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "NM_003472.4",
"protein_id": "NP_003463.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 375,
"cds_start": 872,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": "ENST00000652689.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003472.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000652689.1",
"protein_id": "ENSP00000498653.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 375,
"cds_start": 872,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": "NM_003472.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652689.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.896A>G",
"hgvs_p": "p.Lys299Arg",
"transcript": "ENST00000852490.1",
"protein_id": "ENSP00000522549.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 383,
"cds_start": 896,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852490.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000507591.2",
"protein_id": "ENSP00000423427.2",
"transcript_support_level": 2,
"aa_start": 291,
"aa_end": null,
"aa_length": 380,
"cds_start": 872,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507591.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Lys296Arg",
"transcript": "ENST00000651992.1",
"protein_id": "ENSP00000498320.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 380,
"cds_start": 887,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651992.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "ENST00000943458.1",
"protein_id": "ENSP00000613517.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 379,
"cds_start": 884,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943458.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000652576.1",
"protein_id": "ENSP00000498335.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 375,
"cds_start": 872,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652576.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000852492.1",
"protein_id": "ENSP00000522551.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 375,
"cds_start": 872,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852492.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000919563.1",
"protein_id": "ENSP00000589622.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 375,
"cds_start": 872,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919563.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.857A>G",
"hgvs_p": "p.Lys286Arg",
"transcript": "ENST00000852489.1",
"protein_id": "ENSP00000522548.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 370,
"cds_start": 857,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852489.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.857A>G",
"hgvs_p": "p.Lys286Arg",
"transcript": "ENST00000943459.1",
"protein_id": "ENSP00000613518.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 370,
"cds_start": 857,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943459.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000919564.1",
"protein_id": "ENSP00000589623.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 353,
"cds_start": 872,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919564.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000852487.1",
"protein_id": "ENSP00000522546.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 352,
"cds_start": 872,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852487.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.770A>G",
"hgvs_p": "p.Lys257Arg",
"transcript": "NM_001134709.2",
"protein_id": "NP_001128181.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 341,
"cds_start": 770,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134709.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.770A>G",
"hgvs_p": "p.Lys257Arg",
"transcript": "ENST00000244776.11",
"protein_id": "ENSP00000244776.7",
"transcript_support_level": 2,
"aa_start": 257,
"aa_end": null,
"aa_length": 341,
"cds_start": 770,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244776.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.770A>G",
"hgvs_p": "p.Lys257Arg",
"transcript": "ENST00000852493.1",
"protein_id": "ENSP00000522552.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 341,
"cds_start": 770,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852493.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Lys228Arg",
"transcript": "ENST00000852488.1",
"protein_id": "ENSP00000522547.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 312,
"cds_start": 683,
"cds_end": null,
"cds_length": 939,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852488.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Lys228Arg",
"transcript": "ENST00000919565.1",
"protein_id": "ENSP00000589624.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 312,
"cds_start": 683,
"cds_end": null,
"cds_length": 939,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919565.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.656A>G",
"hgvs_p": "p.Lys219Arg",
"transcript": "ENST00000651624.1",
"protein_id": "ENSP00000498930.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 303,
"cds_start": 656,
"cds_end": null,
"cds_length": 912,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651624.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "XM_024446544.2",
"protein_id": "XP_024302312.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 375,
"cds_start": 872,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446544.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.763-11165A>G",
"hgvs_p": null,
"transcript": "ENST00000852491.1",
"protein_id": "ENSP00000522550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852491.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "n.788A>G",
"hgvs_p": null,
"transcript": "ENST00000505224.5",
"protein_id": "ENSP00000421165.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505224.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "n.434A>G",
"hgvs_p": null,
"transcript": "ENST00000512145.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000512145.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
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"hgvs_c": "n.*110A>G",
"hgvs_p": null,
"transcript": "ENST00000515770.2",
"protein_id": "ENSP00000422380.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515770.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "n.1727A>G",
"hgvs_p": null,
"transcript": "ENST00000652292.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000652292.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "n.*110A>G",
"hgvs_p": null,
"transcript": "ENST00000515770.2",
"protein_id": "ENSP00000422380.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515770.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"hgvs_c": "c.*110A>G",
"hgvs_p": null,
"transcript": "XM_047419335.1",
"protein_id": "XP_047275291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419335.1"
}
],
"gene_symbol": "DEK",
"gene_hgnc_id": 2768,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18139928579330444,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.0967,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.385,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003472.4",
"gene_symbol": "DEK",
"hgnc_id": 2768,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}