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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: 4-83461184-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=83461184&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 83461184,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016067.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Thr",
"transcript": "NM_016067.4",
"protein_id": "NP_057151.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 142,
"cds_start": 416,
"cds_end": null,
"cds_length": 429,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": "ENST00000295491.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016067.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Thr",
"transcript": "ENST00000295491.9",
"protein_id": "ENSP00000295491.4",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 142,
"cds_start": 416,
"cds_end": null,
"cds_length": 429,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": "NM_016067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295491.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1285C>G",
"hgvs_p": null,
"transcript": "NM_139076.3",
"protein_id": "NP_620775.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": "ENST00000321945.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139076.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1285C>G",
"hgvs_p": null,
"transcript": "ENST00000321945.12",
"protein_id": "ENSP00000369857.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": "NM_139076.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321945.12"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Thr",
"transcript": "ENST00000857157.1",
"protein_id": "ENSP00000527216.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 147,
"cds_start": 431,
"cds_end": null,
"cds_length": 444,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857157.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Thr",
"transcript": "ENST00000857155.1",
"protein_id": "ENSP00000527214.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 142,
"cds_start": 416,
"cds_end": null,
"cds_length": 429,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857155.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Thr",
"transcript": "ENST00000857156.1",
"protein_id": "ENSP00000527215.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 142,
"cds_start": 416,
"cds_end": null,
"cds_length": 429,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857156.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Arg135Thr",
"transcript": "ENST00000857158.1",
"protein_id": "ENSP00000527217.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 138,
"cds_start": 404,
"cds_end": null,
"cds_length": 417,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857158.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Arg135Thr",
"transcript": "ENST00000917303.1",
"protein_id": "ENSP00000587362.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 138,
"cds_start": 404,
"cds_end": null,
"cds_length": 417,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917303.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.356G>C",
"hgvs_p": "p.Arg119Thr",
"transcript": "ENST00000917307.1",
"protein_id": "ENSP00000587366.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 122,
"cds_start": 356,
"cds_end": null,
"cds_length": 369,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917307.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.347G>C",
"hgvs_p": "p.Arg116Thr",
"transcript": "ENST00000917305.1",
"protein_id": "ENSP00000587364.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 119,
"cds_start": 347,
"cds_end": null,
"cds_length": 360,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917305.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Thr",
"transcript": "NM_001297767.2",
"protein_id": "NP_001284696.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 114,
"cds_start": 332,
"cds_end": null,
"cds_length": 345,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297767.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Thr",
"transcript": "ENST00000507019.5",
"protein_id": "ENSP00000427169.1",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 114,
"cds_start": 332,
"cds_end": null,
"cds_length": 345,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507019.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.326G>C",
"hgvs_p": "p.Arg109Thr",
"transcript": "ENST00000509970.5",
"protein_id": "ENSP00000427014.1",
"transcript_support_level": 3,
"aa_start": 109,
"aa_end": null,
"aa_length": 112,
"cds_start": 326,
"cds_end": null,
"cds_length": 339,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509970.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000917308.1",
"protein_id": "ENSP00000587367.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 111,
"cds_start": 323,
"cds_end": null,
"cds_length": 336,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917308.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.320G>C",
"hgvs_p": "p.Arg107Thr",
"transcript": "ENST00000917304.1",
"protein_id": "ENSP00000587363.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 110,
"cds_start": 320,
"cds_end": null,
"cds_length": 333,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917304.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18C",
"gene_hgnc_id": 16633,
"hgvs_c": "c.272G>C",
"hgvs_p": "p.Arg91Thr",
"transcript": "ENST00000917306.1",
"protein_id": "ENSP00000587365.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 94,
"cds_start": 272,
"cds_end": null,
"cds_length": 285,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917306.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1285C>G",
"hgvs_p": null,
"transcript": "ENST00000856949.1",
"protein_id": "ENSP00000527008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856949.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1285C>G",
"hgvs_p": null,
"transcript": "ENST00000917160.1",
"protein_id": "ENSP00000587219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917160.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1285C>G",
"hgvs_p": null,
"transcript": "ENST00000856948.1",
"protein_id": "ENSP00000527007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1285C>G",
"hgvs_p": null,
"transcript": "ENST00000917161.1",
"protein_id": "ENSP00000587220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*1285C>G",
"hgvs_p": null,
"transcript": "NM_001345962.2",
"protein_id": "NP_001332891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345962.2"
},
{
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{
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},
{
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"feature": "ENST00000505719.1"
},
{
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{
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"feature": "ENST00000507349.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"feature": "ENST00000475656.6"
},
{
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"strand": true,
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],
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{
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"strand": true,
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],
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"feature": "ENST00000514581.1"
},
{
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],
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"feature": "ENST00000475656.6"
},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "MRPS18C",
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"transcript": "ENST00000509571.1",
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"biotype": "pseudogene",
"feature": "ENST00000509571.1"
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],
"gene_symbol": "MRPS18C",
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"dbsnp": "rs1560569283",
"frequency_reference_population": 6.8505256e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85053e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08884233236312866,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.2729,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.017,
"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": 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_016067.4",
"gene_symbol": "MRPS18C",
"hgnc_id": 16633,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Thr"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139076.3",
"gene_symbol": "ABRAXAS1",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1285C>G",
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}
],
"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
}