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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: 1-167950253-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167950253&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 167950253,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001198956.2",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "NM_001198956.2",
"protein_id": "NP_001185885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": null,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367840.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198956.2"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000367840.4",
"protein_id": "ENSP00000356814.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": null,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001198956.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367840.4"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000312263.10",
"protein_id": "ENSP00000311949.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": null,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312263.10"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000856062.1",
"protein_id": "ENSP00000526121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856062.1"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000943261.1",
"protein_id": "ENSP00000613320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943261.1"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000943278.1",
"protein_id": "ENSP00000613337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943278.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000943266.1",
"protein_id": "ENSP00000613325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": null,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943266.1"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000943255.1",
"protein_id": "ENSP00000613314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": null,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943255.1"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000856044.1",
"protein_id": "ENSP00000526103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 943,
"cds_start": null,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856044.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "NM_001349773.2",
"protein_id": "NP_001336702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": null,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349773.2"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000856039.1",
"protein_id": "ENSP00000526098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856039.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
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"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000856049.1",
"protein_id": "ENSP00000526108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 936,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856049.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
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"transcript": "ENST00000943254.1",
"protein_id": "ENSP00000613313.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 936,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943254.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "DCAF6",
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"hgvs_c": "c.98-1547G>A",
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"transcript": "ENST00000943257.1",
"protein_id": "ENSP00000613316.1",
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"biotype": "protein_coding",
"feature": "ENST00000943257.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000943262.1",
"protein_id": "ENSP00000613321.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943262.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 1,
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"gene_symbol": "DCAF6",
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"hgvs_c": "c.98-1547G>A",
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"biotype": "protein_coding",
"feature": "ENST00000856067.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 1,
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"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000856070.1",
"protein_id": "ENSP00000526129.1",
"transcript_support_level": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856070.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000943259.1",
"protein_id": "ENSP00000613318.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
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"transcript": "NM_001198957.2",
"protein_id": "NP_001185886.1",
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"feature": "NM_001198957.2"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "DCAF6",
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"hgvs_c": "c.98-1547G>A",
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"transcript": "ENST00000432587.6",
"protein_id": "ENSP00000396238.2",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000856069.1",
"protein_id": "ENSP00000526128.1",
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"aa_length": 917,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856069.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.98-1547G>A",
"hgvs_p": null,
"transcript": "ENST00000943275.1",
"protein_id": "ENSP00000613334.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943275.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 18,
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"gene_symbol": "DCAF6",
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"hgvs_c": "n.327-1547G>A",
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"transcript": "NR_146230.2",
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"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146230.2"
}
],
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"dbsnp": "rs202274",
"frequency_reference_population": 0.00003291856,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000329186,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.556,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001198956.2",
"gene_symbol": "DCAF6",
"hgnc_id": 30002,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.98-1547G>A",
"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
}