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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: 16-20349012-CTTCGGGGCAGA-AGGAGGCGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20349012&ref=CTTCGGGGCAGA&alt=AGGAGGCGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20349012,
"ref": "CTTCGGGGCAGA",
"alt": "AGGAGGCGG",
"effect": "missense_variant,disruptive_inframe_deletion",
"transcript": "ENST00000396134.6",
"consequences": [
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "NM_003361.4",
"protein_id": "NP_003352.2",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 640,
"cds_start": 278,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": "ENST00000396138.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "ENST00000396138.9",
"protein_id": "ENSP00000379442.5",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 640,
"cds_start": 278,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": "NM_003361.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.377_388delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val126_Gly130delinsAlaAlaSerCys",
"transcript": "ENST00000396134.6",
"protein_id": "ENSP00000379438.2",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 673,
"cds_start": 377,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "NM_001378234.1",
"protein_id": "NP_001365163.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 687,
"cds_start": 278,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "NM_001378235.1",
"protein_id": "NP_001365164.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 687,
"cds_start": 278,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.377_388delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val126_Gly130delinsAlaAlaSerCys",
"transcript": "NM_001278614.2",
"protein_id": "NP_001265543.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 673,
"cds_start": 377,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "NM_001008389.3",
"protein_id": "NP_001008390.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 640,
"cds_start": 278,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "NM_001378232.1",
"protein_id": "NP_001365161.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 640,
"cds_start": 278,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "NM_001378233.1",
"protein_id": "NP_001365162.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 640,
"cds_start": 278,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "ENST00000570689.5",
"protein_id": "ENSP00000460548.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 640,
"cds_start": 278,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "NM_001378237.1",
"protein_id": "NP_001365166.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 477,
"cds_start": 278,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.347_358delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val116_Gly120delinsAlaAlaSerCys",
"transcript": "ENST00000573567.5",
"protein_id": "ENSP00000460374.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 160,
"cds_start": 347,
"cds_end": null,
"cds_length": 484,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.440_451delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val147_Gly151delinsAlaAlaSerCys",
"transcript": "ENST00000574195.5",
"protein_id": "ENSP00000460845.1",
"transcript_support_level": 3,
"aa_start": 147,
"aa_end": null,
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"cds_start": 440,
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"cdna_start": 705,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "ENST00000571174.5",
"protein_id": "ENSP00000458939.1",
"transcript_support_level": 4,
"aa_start": 93,
"aa_end": null,
"aa_length": 124,
"cds_start": 278,
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"cdna_start": 502,
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"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "ENST00000577168.2",
"protein_id": "ENSP00000459738.2",
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"cds_start": 278,
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"cdna_start": 518,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "ENST00000576688.2",
"protein_id": "ENSP00000461641.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 101,
"cds_start": 278,
"cds_end": null,
"cds_length": 308,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "XM_011545937.1",
"protein_id": "XP_011544239.1",
"transcript_support_level": null,
"aa_start": 93,
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"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "XM_011545938.1",
"protein_id": "XP_011544240.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "VCPEG",
"aa_alt": "AASC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.278_289delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val93_Gly97delinsAlaAlaSerCys",
"transcript": "XM_024450433.2",
"protein_id": "XP_024306201.1",
"transcript_support_level": null,
"aa_start": 93,
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"cdna_start": 565,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "n.503_514delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": null,
"transcript": "NR_165456.1",
"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": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.*13_*24delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000570757.5",
"protein_id": "ENSP00000459724.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": -4,
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"cds_length": 265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"hgvs_c": "c.*20_*31delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000576546.1",
"protein_id": "ENSP00000461120.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": -4,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UMOD",
"gene_hgnc_id": 12559,
"dbsnp": "rs878855325",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.159,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM4_Supporting,PP2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting",
"PP2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000396134.6",
"gene_symbol": "UMOD",
"hgnc_id": 12559,
"effects": [
"missense_variant",
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.377_388delTCTGCCCCGAAGinsCCGCCTCCT",
"hgvs_p": "p.Val126_Gly130delinsAlaAlaSerCys"
}
],
"clinvar_disease": "Autosomal dominant medullary cystic kidney disease with or without hyperuricemia,Familial juvenile hyperuricemic nephropathy type 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 O:1",
"phenotype_combined": "Autosomal dominant medullary cystic kidney disease with or without hyperuricemia|Familial juvenile hyperuricemic nephropathy type 1|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}