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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: X-53198977-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53198977&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53198977,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000375401.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"transcript": "NM_004187.5",
"protein_id": "NP_004178.2",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1560,
"cds_start": 2243,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 5810,
"mane_select": "ENST00000375401.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"transcript": "ENST00000375401.8",
"protein_id": "ENSP00000364550.4",
"transcript_support_level": 1,
"aa_start": 748,
"aa_end": null,
"aa_length": 1560,
"cds_start": 2243,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 5810,
"mane_select": "NM_004187.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2240G>C",
"hgvs_p": "p.Arg747Pro",
"transcript": "ENST00000404049.7",
"protein_id": "ENSP00000385394.3",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 1559,
"cds_start": 2240,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2240G>C",
"hgvs_p": "p.Arg747Pro",
"transcript": "NM_001282622.3",
"protein_id": "NP_001269551.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1559,
"cds_start": 2240,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"transcript": "NM_001353978.3",
"protein_id": "NP_001340907.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1557,
"cds_start": 2243,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 5801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"transcript": "ENST00000375379.7",
"protein_id": "ENSP00000364528.3",
"transcript_support_level": 5,
"aa_start": 748,
"aa_end": null,
"aa_length": 1557,
"cds_start": 2243,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 2776,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2120G>C",
"hgvs_p": "p.Arg707Pro",
"transcript": "ENST00000375383.7",
"protein_id": "ENSP00000364532.3",
"transcript_support_level": 5,
"aa_start": 707,
"aa_end": null,
"aa_length": 1516,
"cds_start": 2120,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2240G>C",
"hgvs_p": "p.Arg747Pro",
"transcript": "NM_001353979.2",
"protein_id": "NP_001340908.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2240,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"transcript": "ENST00000691505.1",
"protein_id": "ENSP00000510354.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1450,
"cds_start": 2243,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"transcript": "NM_001353981.2",
"protein_id": "NP_001340910.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1449,
"cds_start": 2243,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"transcript": "ENST00000685641.2",
"protein_id": "ENSP00000509818.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1449,
"cds_start": 2243,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 4989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2240G>C",
"hgvs_p": "p.Arg747Pro",
"transcript": "NM_001353982.2",
"protein_id": "NP_001340911.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1448,
"cds_start": 2240,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"transcript": "NM_001353984.2",
"protein_id": "NP_001340913.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1444,
"cds_start": 2243,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro",
"transcript": "ENST00000688699.1",
"protein_id": "ENSP00000510430.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1444,
"cds_start": 2243,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 2562,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2042G>C",
"hgvs_p": "p.Arg681Pro",
"transcript": "NM_001146702.2",
"protein_id": "NP_001140174.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1379,
"cds_start": 2042,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2042G>C",
"hgvs_p": "p.Arg681Pro",
"transcript": "ENST00000452825.7",
"protein_id": "ENSP00000445176.1",
"transcript_support_level": 5,
"aa_start": 681,
"aa_end": null,
"aa_length": 1379,
"cds_start": 2042,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Arg583Pro",
"transcript": "ENST00000693277.1",
"protein_id": "ENSP00000510522.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.1004G>C",
"hgvs_p": null,
"transcript": "ENST00000497100.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.2243G>C",
"hgvs_p": null,
"transcript": "ENST00000685423.1",
"protein_id": "ENSP00000508806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.2240G>C",
"hgvs_p": null,
"transcript": "ENST00000687695.1",
"protein_id": "ENSP00000508631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.2561G>C",
"hgvs_p": null,
"transcript": "NR_148672.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.2558G>C",
"hgvs_p": null,
"transcript": "NR_148673.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "KDM5C",
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"hgvs_c": "n.2438G>C",
"hgvs_p": null,
"transcript": "NR_148674.2",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 4931,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6894",
"gene_hgnc_id": 49938,
"hgvs_c": "n.-32G>C",
"hgvs_p": null,
"transcript": "ENST00000622662.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 57,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6894",
"gene_hgnc_id": 49938,
"hgvs_c": "n.-32G>C",
"hgvs_p": null,
"transcript": "NR_106954.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6894",
"gene_hgnc_id": 49938,
"hgvs_c": "n.-68G>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_3748",
"protein_id": null,
"transcript_support_level": null,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 21,
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"feature": null
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6894",
"gene_hgnc_id": 49938,
"hgvs_c": "n.-37G>C",
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"transcript": "unassigned_transcript_3749",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 24,
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"feature": null
}
],
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"dbsnp": "rs797045640",
"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": 0.9582861661911011,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9980000257492065,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.897,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.719,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.999992357917264,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000375401.8",
"gene_symbol": "KDM5C",
"hgnc_id": 11114,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2243G>C",
"hgvs_p": "p.Arg748Pro"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_106954.1",
"gene_symbol": "MIR6894",
"hgnc_id": 49938,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-32G>C",
"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
}