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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: 15-83030299-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=83030299&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 83030299,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_025238.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.892C>G",
"hgvs_p": "p.Arg298Gly",
"transcript": "NM_025238.4",
"protein_id": "NP_079514.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 482,
"cds_start": 892,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": "ENST00000261721.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025238.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.892C>G",
"hgvs_p": "p.Arg298Gly",
"transcript": "ENST00000261721.9",
"protein_id": "ENSP00000261721.4",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 482,
"cds_start": 892,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": "NM_025238.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261721.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000944296.1",
"protein_id": "ENSP00000614355.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 521,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 3306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944296.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.967C>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "ENST00000944299.1",
"protein_id": "ENSP00000614358.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 507,
"cds_start": 967,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944299.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Arg305Gly",
"transcript": "ENST00000876369.1",
"protein_id": "ENSP00000546428.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 489,
"cds_start": 913,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876369.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.892C>G",
"hgvs_p": "p.Arg298Gly",
"transcript": "ENST00000876368.1",
"protein_id": "ENSP00000546427.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 482,
"cds_start": 892,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876368.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.892C>G",
"hgvs_p": "p.Arg298Gly",
"transcript": "ENST00000876371.1",
"protein_id": "ENSP00000546430.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 433,
"cds_start": 892,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876371.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"transcript": "ENST00000944298.1",
"protein_id": "ENSP00000614357.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 423,
"cds_start": 715,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944298.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.694C>G",
"hgvs_p": "p.Arg232Gly",
"transcript": "ENST00000876370.1",
"protein_id": "ENSP00000546429.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 416,
"cds_start": 694,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876370.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.892C>G",
"hgvs_p": "p.Arg298Gly",
"transcript": "NM_001011885.2",
"protein_id": "NP_001011885.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 385,
"cds_start": 892,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011885.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.892C>G",
"hgvs_p": "p.Arg298Gly",
"transcript": "ENST00000379403.2",
"protein_id": "ENSP00000368713.2",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 385,
"cds_start": 892,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379403.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.694C>G",
"hgvs_p": "p.Arg232Gly",
"transcript": "ENST00000929299.1",
"protein_id": "ENSP00000599358.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 367,
"cds_start": 694,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929299.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.Arg289Gly",
"transcript": "ENST00000929300.1",
"protein_id": "ENSP00000599359.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 473,
"cds_start": 865,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929300.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "c.559-11446C>G",
"hgvs_p": null,
"transcript": "ENST00000944297.1",
"protein_id": "ENSP00000614356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944297.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "n.468C>G",
"hgvs_p": null,
"transcript": "ENST00000558344.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 648,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000558344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "n.*207C>G",
"hgvs_p": null,
"transcript": "ENST00000559652.5",
"protein_id": "ENSP00000453104.1",
"transcript_support_level": 3,
"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": 797,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559652.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "n.124C>G",
"hgvs_p": null,
"transcript": "ENST00000560015.1",
"protein_id": null,
"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": 608,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "n.993C>G",
"hgvs_p": null,
"transcript": "XR_007064459.1",
"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": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD1",
"gene_hgnc_id": 1120,
"hgvs_c": "n.*207C>G",
"hgvs_p": null,
"transcript": "ENST00000559652.5",
"protein_id": "ENSP00000453104.1",
"transcript_support_level": 3,
"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": 797,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559652.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259805",
"gene_hgnc_id": null,
"hgvs_c": "n.735-73125G>C",
"hgvs_p": null,
"transcript": "ENST00000566841.1",
"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": 754,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000566841.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260351",
"gene_hgnc_id": null,
"hgvs_c": "n.37+7692G>C",
"hgvs_p": null,
"transcript": "ENST00000568441.1",
"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": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000568441.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260608",
"gene_hgnc_id": null,
"hgvs_c": "n.78+17577G>C",
"hgvs_p": null,
"transcript": "ENST00000570202.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 438,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000570202.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
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"biotype": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"biotype": "pseudogene",
"feature": "ENST00000835197.1"
},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 2,
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"gene_symbol": "LOC124903542",
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"hgvs_c": "n.1319+17240G>C",
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"biotype": "pseudogene",
"feature": "XR_007064742.1"
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],
"gene_symbol": "BTBD1",
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"dbsnp": "rs751514037",
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"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": 0.8354778289794922,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.2039,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.931,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025238.4",
"gene_symbol": "BTBD1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.892C>G",
"hgvs_p": "p.Arg298Gly"
},
{
"score": 3,
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000570202.2",
"gene_symbol": "ENSG00000260608",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.78+17577G>C",
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},
{
"score": 3,
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007064742.1",
"gene_symbol": "LOC124903542",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1319+17240G>C",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000566841.1",
"gene_symbol": "ENSG00000259805",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.735-73125G>C",
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},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000568441.1",
"gene_symbol": "ENSG00000260351",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.37+7692G>C",
"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
}