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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: 7-899486-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=899486&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 899486,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001284308.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.800C>G",
"hgvs_p": "p.Thr267Arg",
"transcript": "NM_006869.4",
"protein_id": "NP_006860.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 374,
"cds_start": 800,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": "ENST00000265846.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006869.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.800C>G",
"hgvs_p": "p.Thr267Arg",
"transcript": "ENST00000265846.10",
"protein_id": "ENSP00000265846.5",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 374,
"cds_start": 800,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": "NM_006869.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265846.10"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.833C>G",
"hgvs_p": "p.Thr278Arg",
"transcript": "NM_001284308.2",
"protein_id": "NP_001271237.2",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 385,
"cds_start": 833,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284308.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.833C>G",
"hgvs_p": "p.Thr278Arg",
"transcript": "ENST00000539900.5",
"protein_id": "ENSP00000442682.1",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 385,
"cds_start": 833,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539900.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.800C>G",
"hgvs_p": "p.Thr267Arg",
"transcript": "ENST00000943017.1",
"protein_id": "ENSP00000613076.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 380,
"cds_start": 800,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943017.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.818C>G",
"hgvs_p": "p.Thr273Arg",
"transcript": "ENST00000943018.1",
"protein_id": "ENSP00000613077.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 380,
"cds_start": 818,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943018.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.797C>G",
"hgvs_p": "p.Thr266Arg",
"transcript": "ENST00000649206.1",
"protein_id": "ENSP00000497220.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 373,
"cds_start": 797,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649206.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Thr249Arg",
"transcript": "ENST00000446141.5",
"protein_id": "ENSP00000414436.1",
"transcript_support_level": 2,
"aa_start": 249,
"aa_end": null,
"aa_length": 356,
"cds_start": 746,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446141.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Thr249Arg",
"transcript": "ENST00000943015.1",
"protein_id": "ENSP00000613074.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 356,
"cds_start": 746,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943015.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Thr249Arg",
"transcript": "ENST00000943016.1",
"protein_id": "ENSP00000613075.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 356,
"cds_start": 746,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943016.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Thr246Arg",
"transcript": "ENST00000943014.1",
"protein_id": "ENSP00000613073.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 353,
"cds_start": 737,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943014.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.653C>G",
"hgvs_p": "p.Thr218Arg",
"transcript": "ENST00000943019.1",
"protein_id": "ENSP00000613078.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 325,
"cds_start": 653,
"cds_end": null,
"cds_length": 978,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943019.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Thr195Arg",
"transcript": "NM_001284309.2",
"protein_id": "NP_001271238.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 302,
"cds_start": 584,
"cds_end": null,
"cds_length": 909,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284309.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Thr195Arg",
"transcript": "NM_001284310.2",
"protein_id": "NP_001271239.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 302,
"cds_start": 584,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284310.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Thr195Arg",
"transcript": "ENST00000449296.6",
"protein_id": "ENSP00000407267.2",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 302,
"cds_start": 584,
"cds_end": null,
"cds_length": 909,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449296.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Thr195Arg",
"transcript": "ENST00000611167.4",
"protein_id": "ENSP00000481154.1",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 302,
"cds_start": 584,
"cds_end": null,
"cds_length": 909,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611167.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.515C>G",
"hgvs_p": "p.Thr172Arg",
"transcript": "NM_001284311.2",
"protein_id": "NP_001271240.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 279,
"cds_start": 515,
"cds_end": null,
"cds_length": 840,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284311.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.515C>G",
"hgvs_p": "p.Thr172Arg",
"transcript": "ENST00000617043.4",
"protein_id": "ENSP00000478011.1",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 279,
"cds_start": 515,
"cds_end": null,
"cds_length": 840,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617043.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.494C>G",
"hgvs_p": "p.Thr165Arg",
"transcript": "ENST00000876359.1",
"protein_id": "ENSP00000546418.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 272,
"cds_start": 494,
"cds_end": null,
"cds_length": 819,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876359.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.413C>G",
"hgvs_p": "p.Thr138Arg",
"transcript": "ENST00000453175.6",
"protein_id": "ENSP00000409129.2",
"transcript_support_level": 5,
"aa_start": 138,
"aa_end": null,
"aa_length": 245,
"cds_start": 413,
"cds_end": null,
"cds_length": 738,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453175.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Arg",
"transcript": "ENST00000437486.5",
"protein_id": "ENSP00000404217.1",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 205,
"cds_start": 599,
"cds_end": null,
"cds_length": 620,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437486.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX19",
"gene_hgnc_id": 28074,
"hgvs_c": "n.*543C>G",
"hgvs_p": null,
"transcript": "ENST00000457254.5",
"protein_id": "ENSP00000413423.1",
"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": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457254.5"
},
{
"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": "ADAP1",
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"hgvs_c": "n.856C>G",
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"transcript": "ENST00000478000.5",
"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": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478000.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"hgvs_c": "n.935C>G",
"hgvs_p": null,
"transcript": "ENST00000495809.1",
"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": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495809.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX19",
"gene_hgnc_id": 28074,
"hgvs_c": "n.*543C>G",
"hgvs_p": null,
"transcript": "ENST00000457254.5",
"protein_id": "ENSP00000413423.1",
"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": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457254.5"
}
],
"gene_symbol": "ADAP1",
"gene_hgnc_id": 16486,
"dbsnp": "rs780500760",
"frequency_reference_population": 0.00007937216,
"hom_count_reference_population": 0,
"allele_count_reference_population": 128,
"gnomad_exomes_af": 0.0000849062,
"gnomad_genomes_af": 0.0000262778,
"gnomad_exomes_ac": 124,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1663232445716858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.2237,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.162,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001284308.2",
"gene_symbol": "ADAP1",
"hgnc_id": 16486,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.833C>G",
"hgvs_p": "p.Thr278Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000457254.5",
"gene_symbol": "COX19",
"hgnc_id": 28074,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*543C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}