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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: 19-18144549-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18144549&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18144549,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000687212.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Gly890Ser",
"transcript": "NM_001393504.1",
"protein_id": "NP_001380433.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1347,
"cds_start": 2668,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "ENST00000687212.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Gly890Ser",
"transcript": "ENST00000687212.1",
"protein_id": "ENSP00000509890.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1347,
"cds_start": 2668,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "NM_001393504.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2581G>A",
"hgvs_p": "p.Gly861Ser",
"transcript": "ENST00000262811.10",
"protein_id": "ENSP00000262811.4",
"transcript_support_level": 1,
"aa_start": 861,
"aa_end": null,
"aa_length": 1309,
"cds_start": 2581,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2692G>A",
"hgvs_p": "p.Gly898Ser",
"transcript": "NM_001393501.1",
"protein_id": "NP_001380430.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1355,
"cds_start": 2692,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 2707,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Gly891Ser",
"transcript": "NM_001393502.1",
"protein_id": "NP_001380431.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1348,
"cds_start": 2671,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 6023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Gly890Ser",
"transcript": "NM_001393503.1",
"protein_id": "NP_001380432.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1347,
"cds_start": 2668,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 2812,
"cdna_end": null,
"cdna_length": 6149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"transcript": "NM_001393505.1",
"protein_id": "NP_001380434.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2665,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 2809,
"cdna_end": null,
"cdna_length": 6119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Gly874Ser",
"transcript": "NM_001393506.1",
"protein_id": "NP_001380435.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2620,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 2799,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Gly883Ser",
"transcript": "NM_001393507.1",
"protein_id": "NP_001380436.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 2791,
"cdna_end": null,
"cdna_length": 6101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Gly883Ser",
"transcript": "ENST00000697701.1",
"protein_id": "ENSP00000513408.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 2797,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Gly868Ser",
"transcript": "NM_001393508.1",
"protein_id": "NP_001380437.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2617,
"cdna_end": null,
"cdna_length": 5954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2599G>A",
"hgvs_p": "p.Gly867Ser",
"transcript": "NM_001393509.1",
"protein_id": "NP_001380438.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 5951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2599G>A",
"hgvs_p": "p.Gly867Ser",
"transcript": "NM_001393510.1",
"protein_id": "NP_001380439.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 6115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2596G>A",
"hgvs_p": "p.Gly866Ser",
"transcript": "NM_001393511.1",
"protein_id": "NP_001380440.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1323,
"cds_start": 2596,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2599G>A",
"hgvs_p": "p.Gly867Ser",
"transcript": "NM_001393512.1",
"protein_id": "NP_001380441.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1323,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Gly874Ser",
"transcript": "NM_001393513.1",
"protein_id": "NP_001380442.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2620,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 2799,
"cdna_end": null,
"cdna_length": 6109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2581G>A",
"hgvs_p": "p.Gly861Ser",
"transcript": "NM_001393514.1",
"protein_id": "NP_001380443.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1318,
"cds_start": 2581,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Gly860Ser",
"transcript": "NM_001393515.1",
"protein_id": "NP_001380444.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1317,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3954,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Gly868Ser",
"transcript": "NM_001393516.1",
"protein_id": "NP_001380445.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1316,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 2617,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2599G>A",
"hgvs_p": "p.Gly867Ser",
"transcript": "NM_001393517.1",
"protein_id": "NP_001380446.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2599G>A",
"hgvs_p": "p.Gly867Ser",
"transcript": "NM_001393518.1",
"protein_id": "NP_001380447.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2599G>A",
"hgvs_p": "p.Gly867Ser",
"transcript": "ENST00000697702.1",
"protein_id": "ENSP00000513409.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 2924,
"cdna_end": null,
"cdna_length": 6239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
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},
{
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"protein_coding": true,
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],
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},
{
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],
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"gene_symbol": "MAST3",
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"hgvs_c": "c.2617G>A",
"hgvs_p": "p.Gly873Ser",
"transcript": "XM_047438485.1",
"protein_id": "XP_047294441.1",
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"aa_start": 873,
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},
{
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"consequences": [
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],
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"exon_count": 2,
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"gene_symbol": "MAST3-AS1",
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},
{
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"upstream_gene_variant"
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"gene_symbol": "MAST3",
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},
{
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"gene_symbol": "MAST3",
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"hgvs_c": "n.*134G>A",
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"transcript": "ENST00000609494.1",
"protein_id": "ENSP00000477109.1",
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}
],
"gene_symbol": "MAST3",
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"dbsnp": "rs8108738",
"frequency_reference_population": 0.52741057,
"hom_count_reference_population": 227209,
"allele_count_reference_population": 848919,
"gnomad_exomes_af": 0.532351,
"gnomad_genomes_af": 0.480074,
"gnomad_exomes_ac": 775892,
"gnomad_genomes_ac": 73027,
"gnomad_exomes_homalt": 209034,
"gnomad_genomes_homalt": 18175,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000008170261025952641,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.0686,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.254,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000687212.1",
"gene_symbol": "MAST3",
"hgnc_id": 19036,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Gly890Ser"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000600364.2",
"gene_symbol": "MAST3-AS1",
"hgnc_id": 55276,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.436C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}