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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: 17-35822344-CAAAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35822344&ref=CAAAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35822344,
"ref": "CAAAA",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_139215.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.291-281_291-278delAAAA",
"hgvs_p": null,
"transcript": "NM_139215.3",
"protein_id": "NP_631961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": "ENST00000605844.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139215.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.291-295_291-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000605844.6",
"protein_id": "ENSP00000474096.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": "NM_139215.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605844.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.282-295_282-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000604841.5",
"protein_id": "ENSP00000474609.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604841.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.291-295_291-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000603393.6",
"protein_id": "ENSP00000474653.2",
"transcript_support_level": 1,
"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": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000603393.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.291-295_291-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000947553.1",
"protein_id": "ENSP00000617612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": null,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947553.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.291-295_291-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000852326.1",
"protein_id": "ENSP00000522385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852326.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.282-281_282-278delAAAA",
"hgvs_p": null,
"transcript": "NM_003487.4",
"protein_id": "NP_003478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003487.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.282-295_282-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000852324.1",
"protein_id": "ENSP00000522383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.291-295_291-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000852325.1",
"protein_id": "ENSP00000522384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852325.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.291-295_291-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000852321.1",
"protein_id": "ENSP00000522380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": null,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.282-295_282-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000919938.1",
"protein_id": "ENSP00000589997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
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"cds_length": 1671,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919938.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.291-295_291-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000852323.1",
"protein_id": "ENSP00000522382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
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"cds_length": 1593,
"cdna_start": null,
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"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852323.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.282-295_282-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000919939.1",
"protein_id": "ENSP00000589998.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 425,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000919939.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "TAF15",
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"hgvs_c": "c.8-12221_8-12218delAAAA",
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"transcript": "ENST00000919937.1",
"protein_id": "ENSP00000589996.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919937.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.291-295_291-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000852322.1",
"protein_id": "ENSP00000522381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000852322.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.383-295_383-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000603427.6",
"protein_id": "ENSP00000474436.2",
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"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000603427.6"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000270894",
"gene_hgnc_id": null,
"hgvs_c": "n.317-1264_317-1261delAAAA",
"hgvs_p": null,
"transcript": "ENST00000603678.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 421,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000603678.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.461-295_461-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000603777.6",
"protein_id": "ENSP00000474522.2",
"transcript_support_level": 5,
"aa_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000603777.6"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000270871",
"gene_hgnc_id": null,
"hgvs_c": "n.264-5407_264-5404delTTTT",
"hgvs_p": null,
"transcript": "ENST00000603981.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000603981.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.*79-295_*79-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000604360.6",
"protein_id": "ENSP00000510013.1",
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"aa_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000604360.6"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.291-295_291-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000604694.2",
"protein_id": "ENSP00000475147.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000604694.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.206-295_206-292delAAAA",
"hgvs_p": null,
"transcript": "ENST00000604879.6",
"protein_id": "ENSP00000475044.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000604879.6"
},
{
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{
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{
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{
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"feature": "ENST00000689923.1"
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],
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"dbsnp": "rs909362495",
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.000044455,
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"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.435,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "TAF15",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
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},
{
"score": 2,
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"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000603678.1",
"gene_symbol": "ENSG00000270894",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.317-1264_317-1261delAAAA",
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},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000603981.1",
"gene_symbol": "ENSG00000270871",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.264-5407_264-5404delTTTT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}