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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: 12-57694805-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57694805&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57694805,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006812.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_006812.4",
"protein_id": "NP_006803.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 667,
"cds_start": 218,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": "ENST00000315970.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000315970.12",
"protein_id": "ENSP00000318165.7",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 667,
"cds_start": 218,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": "NM_006812.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000552285.6",
"protein_id": "ENSP00000450010.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 612,
"cds_start": 218,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_001410980.1",
"protein_id": "NP_001397909.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 668,
"cds_start": 218,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000700665.1",
"protein_id": "ENSP00000515134.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 668,
"cds_start": 218,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000700663.1",
"protein_id": "ENSP00000515132.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 666,
"cds_start": 218,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000700662.1",
"protein_id": "ENSP00000515131.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_001410978.1",
"protein_id": "NP_001397907.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 653,
"cds_start": 218,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000700661.1",
"protein_id": "ENSP00000515130.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 653,
"cds_start": 218,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_001017958.3",
"protein_id": "NP_001017958.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 652,
"cds_start": 218,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000389146.11",
"protein_id": "ENSP00000373798.6",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 652,
"cds_start": 218,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000700657.1",
"protein_id": "ENSP00000515126.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 622,
"cds_start": 218,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_001261420.2",
"protein_id": "NP_001248349.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 613,
"cds_start": 218,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 248,
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"cdna_length": 2520,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000257966.13",
"protein_id": "ENSP00000257966.8",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_001017956.3",
"protein_id": "NP_001017956.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 612,
"cds_start": 218,
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"cdna_start": 248,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000700658.1",
"protein_id": "ENSP00000515127.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_001410979.1",
"protein_id": "NP_001397908.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 598,
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"cdna_start": 248,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000700659.1",
"protein_id": "ENSP00000515128.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 598,
"cds_start": 218,
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"cdna_start": 539,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_001017957.3",
"protein_id": "NP_001017957.1",
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},
{
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"strand": true,
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"missense_variant"
],
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"intron_rank": null,
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"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000389142.10",
"protein_id": "ENSP00000373794.5",
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"aa_start": 73,
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},
{
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"protein_coding": true,
"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "OS9",
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"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_001261421.2",
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "C",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "ENST00000551035.5",
"protein_id": "ENSP00000447866.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 580,
"cds_start": 218,
"cds_end": null,
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"cdna_start": 235,
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"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr",
"transcript": "NM_001261422.2",
"protein_id": "NP_001248351.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
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"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.162+482G>A",
"hgvs_p": null,
"transcript": "ENST00000439210.6",
"protein_id": "ENSP00000407360.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257342",
"gene_hgnc_id": 58278,
"hgvs_c": "n.535-509C>T",
"hgvs_p": null,
"transcript": "ENST00000549477.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"dbsnp": "rs1012136631",
"frequency_reference_population": 0.000008674306,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000273631,
"gnomad_genomes_af": 0.0000657289,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8348081707954407,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.651,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.264,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006812.4",
"gene_symbol": "OS9",
"hgnc_id": 16994,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Cys73Tyr"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000549477.1",
"gene_symbol": "ENSG00000257342",
"hgnc_id": 58278,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.535-509C>T",
"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
}