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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: 3-4410945-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4410945&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 4410945,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_182760.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp",
"transcript": "NM_182760.4",
"protein_id": "NP_877437.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 374,
"cds_start": 874,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272902.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182760.4"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": true,
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp",
"transcript": "ENST00000272902.10",
"protein_id": "ENSP00000272902.5",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 374,
"cds_start": 874,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182760.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272902.10"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp",
"transcript": "ENST00000405420.2",
"protein_id": "ENSP00000384977.2",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 354,
"cds_start": 874,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405420.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.895T>G",
"hgvs_p": "p.Tyr299Asp",
"transcript": "ENST00000948922.1",
"protein_id": "ENSP00000618981.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 381,
"cds_start": 895,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948922.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.820T>G",
"hgvs_p": "p.Tyr274Asp",
"transcript": "ENST00000948921.1",
"protein_id": "ENSP00000618980.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 356,
"cds_start": 820,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948921.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp",
"transcript": "NM_001164675.2",
"protein_id": "NP_001158147.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 354,
"cds_start": 874,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164675.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.799T>G",
"hgvs_p": "p.Tyr267Asp",
"transcript": "NM_001164674.2",
"protein_id": "NP_001158146.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 349,
"cds_start": 799,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164674.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.799T>G",
"hgvs_p": "p.Tyr267Asp",
"transcript": "ENST00000383843.9",
"protein_id": "ENSP00000373355.5",
"transcript_support_level": 2,
"aa_start": 267,
"aa_end": null,
"aa_length": 349,
"cds_start": 799,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383843.9"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.799T>G",
"hgvs_p": "p.Tyr267Asp",
"transcript": "ENST00000933293.1",
"protein_id": "ENSP00000603352.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 329,
"cds_start": 799,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933293.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.700T>G",
"hgvs_p": "p.Tyr234Asp",
"transcript": "ENST00000881802.1",
"protein_id": "ENSP00000551861.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 316,
"cds_start": 700,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881802.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.625T>G",
"hgvs_p": "p.Tyr209Asp",
"transcript": "ENST00000881801.1",
"protein_id": "ENSP00000551860.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 291,
"cds_start": 625,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881801.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.553T>G",
"hgvs_p": "p.Tyr185Asp",
"transcript": "ENST00000881800.1",
"protein_id": "ENSP00000551859.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 267,
"cds_start": 553,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881800.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.478T>G",
"hgvs_p": "p.Tyr160Asp",
"transcript": "ENST00000458465.6",
"protein_id": "ENSP00000410060.2",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 242,
"cds_start": 478,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458465.6"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp",
"transcript": "XM_011533624.4",
"protein_id": "XP_011531926.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 448,
"cds_start": 874,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533624.4"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp",
"transcript": "XM_017006252.3",
"protein_id": "XP_016861741.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 428,
"cds_start": 874,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006252.3"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.799T>G",
"hgvs_p": "p.Tyr267Asp",
"transcript": "XM_017006253.2",
"protein_id": "XP_016861742.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 423,
"cds_start": 799,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006253.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp",
"transcript": "XM_017006254.3",
"protein_id": "XP_016861743.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 402,
"cds_start": 874,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006254.3"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp",
"transcript": "XM_011533625.4",
"protein_id": "XP_011531927.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 378,
"cds_start": 874,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533625.4"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp",
"transcript": "XM_011533626.4",
"protein_id": "XP_011531928.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 372,
"cds_start": 874,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533626.4"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.799T>G",
"hgvs_p": "p.Tyr267Asp",
"transcript": "XM_047448024.1",
"protein_id": "XP_047303980.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 353,
"cds_start": 799,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448024.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.799T>G",
"hgvs_p": "p.Tyr267Asp",
"transcript": "XM_047448025.1",
"protein_id": "XP_047303981.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 329,
"cds_start": 799,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SUMF1",
"gene_hgnc_id": 20376,
"hgvs_c": "c.520-34556T>G",
"hgvs_p": null,
"transcript": "ENST00000881803.1",
"protein_id": "ENSP00000551862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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"non_coding_transcript_exon_variant"
],
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"biotype": "nonsense_mediated_decay",
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{
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"non_coding_transcript_exon_variant"
],
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"exon_count": 10,
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"gene_symbol": "SUMF1",
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"biotype": "pseudogene",
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],
"gene_symbol": "SUMF1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9580299854278564,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.832,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7164,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.641,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_182760.4",
"gene_symbol": "SUMF1",
"hgnc_id": 20376,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.874T>G",
"hgvs_p": "p.Tyr292Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}