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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: 15-75355976-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75355976&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75355976,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001256494.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3053G>T",
"hgvs_p": "p.Arg1018Leu",
"transcript": "NM_006715.4",
"protein_id": "NP_006706.2",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1040,
"cds_start": 3053,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267978.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006715.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3053G>T",
"hgvs_p": "p.Arg1018Leu",
"transcript": "ENST00000267978.10",
"protein_id": "ENSP00000267978.4",
"transcript_support_level": 1,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1040,
"cds_start": 3053,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006715.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267978.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3104G>T",
"hgvs_p": "p.Arg1035Leu",
"transcript": "ENST00000565683.5",
"protein_id": "ENSP00000457788.1",
"transcript_support_level": 1,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3104,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565683.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2984G>T",
"hgvs_p": "p.Arg995Leu",
"transcript": "ENST00000569482.5",
"protein_id": "ENSP00000455998.1",
"transcript_support_level": 1,
"aa_start": 995,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569482.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2756G>T",
"hgvs_p": "p.Arg919Leu",
"transcript": "ENST00000563622.5",
"protein_id": "ENSP00000454589.1",
"transcript_support_level": 1,
"aa_start": 919,
"aa_end": null,
"aa_length": 941,
"cds_start": 2756,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563622.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*942C>A",
"hgvs_p": null,
"transcript": "NM_024608.4",
"protein_id": "NP_078884.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355059.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024608.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*942C>A",
"hgvs_p": null,
"transcript": "ENST00000355059.9",
"protein_id": "ENSP00000347170.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024608.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355059.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3155G>T",
"hgvs_p": "p.Arg1052Leu",
"transcript": "ENST00000854693.1",
"protein_id": "ENSP00000524752.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1074,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854693.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3131G>T",
"hgvs_p": "p.Arg1044Leu",
"transcript": "ENST00000854682.1",
"protein_id": "ENSP00000524741.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3131,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854682.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3128G>T",
"hgvs_p": "p.Arg1043Leu",
"transcript": "ENST00000964304.1",
"protein_id": "ENSP00000634363.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1065,
"cds_start": 3128,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964304.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3116G>T",
"hgvs_p": "p.Arg1039Leu",
"transcript": "ENST00000964320.1",
"protein_id": "ENSP00000634379.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1061,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964320.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3110G>T",
"hgvs_p": "p.Arg1037Leu",
"transcript": "ENST00000854686.1",
"protein_id": "ENSP00000524745.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854686.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "ENST00000854698.1",
"protein_id": "ENSP00000524757.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854698.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3104G>T",
"hgvs_p": "p.Arg1035Leu",
"transcript": "NM_001256494.2",
"protein_id": "NP_001243423.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3104,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256494.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3095G>T",
"hgvs_p": "p.Arg1032Leu",
"transcript": "ENST00000964318.1",
"protein_id": "ENSP00000634377.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1054,
"cds_start": 3095,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964318.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3092G>T",
"hgvs_p": "p.Arg1031Leu",
"transcript": "ENST00000854704.1",
"protein_id": "ENSP00000524763.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854704.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3089G>T",
"hgvs_p": "p.Arg1030Leu",
"transcript": "ENST00000854683.1",
"protein_id": "ENSP00000524742.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854683.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3089G>T",
"hgvs_p": "p.Arg1030Leu",
"transcript": "ENST00000854697.1",
"protein_id": "ENSP00000524756.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854697.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3083G>T",
"hgvs_p": "p.Arg1028Leu",
"transcript": "ENST00000854695.1",
"protein_id": "ENSP00000524754.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3083,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854695.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3083G>T",
"hgvs_p": "p.Arg1028Leu",
"transcript": "ENST00000854702.1",
"protein_id": "ENSP00000524761.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3083,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854702.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3077G>T",
"hgvs_p": "p.Arg1026Leu",
"transcript": "ENST00000854684.1",
"protein_id": "ENSP00000524743.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1048,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854684.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.3068G>T",
"hgvs_p": "p.Arg1023Leu",
"transcript": "ENST00000854700.1",
"protein_id": "ENSP00000524759.1",
"transcript_support_level": null,
"aa_start": 1023,
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],
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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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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"downstream_gene_variant"
],
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"gene_symbol": "MAN2C1",
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"biotype": "retained_intron",
"feature": "ENST00000563528.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "MAN2C1",
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"hgvs_c": "n.*144G>T",
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"transcript": "ENST00000566569.1",
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"biotype": "retained_intron",
"feature": "ENST00000566569.1"
}
],
"gene_symbol": "MAN2C1",
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"dbsnp": "rs369456817",
"frequency_reference_population": 6.84075e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84075e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2572963237762451,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.135,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.496,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_001256494.2",
"gene_symbol": "MAN2C1",
"hgnc_id": 6827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3104G>T",
"hgvs_p": "p.Arg1035Leu"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024608.4",
"gene_symbol": "NEIL1",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*942C>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
}