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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: 17-61368327-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61368327&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61368327,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000407086.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2426G>T",
"hgvs_p": "p.Gly809Val",
"transcript": "NM_017679.5",
"protein_id": "NP_060149.3",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 913,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": "ENST00000407086.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2426G>T",
"hgvs_p": "p.Gly809Val",
"transcript": "ENST00000407086.8",
"protein_id": "ENSP00000385323.2",
"transcript_support_level": 1,
"aa_start": 809,
"aa_end": null,
"aa_length": 913,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": "NM_017679.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2471G>T",
"hgvs_p": "p.Gly824Val",
"transcript": "ENST00000390652.9",
"protein_id": "ENSP00000375067.4",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 928,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2426G>T",
"hgvs_p": "p.Gly809Val",
"transcript": "ENST00000589222.5",
"protein_id": "ENSP00000466078.1",
"transcript_support_level": 1,
"aa_start": 809,
"aa_end": null,
"aa_length": 928,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.1072G>T",
"hgvs_p": null,
"transcript": "ENST00000592702.5",
"protein_id": null,
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Gly854Val",
"transcript": "NM_001353144.2",
"protein_id": "NP_001340073.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 958,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2471G>T",
"hgvs_p": "p.Gly824Val",
"transcript": "NM_001330413.2",
"protein_id": "NP_001317342.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 950,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2471G>T",
"hgvs_p": "p.Gly824Val",
"transcript": "ENST00000588462.5",
"protein_id": "ENSP00000468592.1",
"transcript_support_level": 5,
"aa_start": 824,
"aa_end": null,
"aa_length": 950,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2516G>T",
"hgvs_p": "p.Gly839Val",
"transcript": "NM_001353145.2",
"protein_id": "NP_001340074.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 943,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2426G>T",
"hgvs_p": "p.Gly809Val",
"transcript": "NM_001330414.2",
"protein_id": "NP_001317343.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 935,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2426G>T",
"hgvs_p": "p.Gly809Val",
"transcript": "ENST00000408905.7",
"protein_id": "ENSP00000386173.2",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 935,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2471G>T",
"hgvs_p": "p.Gly824Val",
"transcript": "NM_001099432.3",
"protein_id": "NP_001092902.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 928,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2426G>T",
"hgvs_p": "p.Gly809Val",
"transcript": "NM_001320470.3",
"protein_id": "NP_001307399.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 928,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2471G>T",
"hgvs_p": "p.Gly824Val",
"transcript": "NM_001353146.2",
"protein_id": "NP_001340075.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 921,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1784G>T",
"hgvs_p": "p.Gly595Val",
"transcript": "ENST00000585744.5",
"protein_id": "ENSP00000468682.1",
"transcript_support_level": 5,
"aa_start": 595,
"aa_end": null,
"aa_length": 699,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1739G>T",
"hgvs_p": "p.Gly580Val",
"transcript": "ENST00000588874.5",
"protein_id": "ENSP00000464825.1",
"transcript_support_level": 2,
"aa_start": 580,
"aa_end": null,
"aa_length": 684,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.467G>T",
"hgvs_p": "p.Gly156Val",
"transcript": "ENST00000587002.1",
"protein_id": "ENSP00000464711.1",
"transcript_support_level": 3,
"aa_start": 156,
"aa_end": null,
"aa_length": 182,
"cds_start": 467,
"cds_end": null,
"cds_length": 550,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.936G>T",
"hgvs_p": null,
"transcript": "ENST00000585812.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.904G>T",
"hgvs_p": null,
"transcript": "ENST00000585979.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.498G>T",
"hgvs_p": null,
"transcript": "ENST00000587294.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.254G>T",
"hgvs_p": null,
"transcript": "ENST00000588569.1",
"protein_id": null,
"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": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBX2-AS1",
"gene_hgnc_id": 50355,
"hgvs_c": "n.29-623C>A",
"hgvs_p": null,
"transcript": "ENST00000585765.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
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{
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{
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},
{
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],
"gene_symbol": "BCAS3",
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"dbsnp": "rs775141966",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.505961537361145,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.972000002861023,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.356,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.438,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.314,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.15,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.999876297887426,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000407086.8",
"gene_symbol": "BCAS3",
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"effects": [
"missense_variant",
"splice_region_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.2426G>T",
"hgvs_p": "p.Gly809Val"
},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000717203.1",
"gene_symbol": "TBX2-AS1",
"hgnc_id": 50355,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.105-623C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}