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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: 8-106692816-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=106692816&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 106692816,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001198532.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Glu205Ala",
"transcript": "NM_001198533.2",
"protein_id": "NP_001185462.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 873,
"cds_start": 614,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000517566.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198533.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Glu205Ala",
"transcript": "ENST00000517566.7",
"protein_id": "ENSP00000429205.2",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 873,
"cds_start": 614,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001198533.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517566.7"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.Glu198Ala",
"transcript": "ENST00000312046.10",
"protein_id": "ENSP00000311026.6",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 839,
"cds_start": 593,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312046.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "n.*370A>C",
"hgvs_p": null,
"transcript": "ENST00000438229.6",
"protein_id": "ENSP00000414992.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438229.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "n.*370A>C",
"hgvs_p": null,
"transcript": "ENST00000438229.6",
"protein_id": "ENSP00000414992.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438229.6"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.617A>C",
"hgvs_p": "p.Glu206Ala",
"transcript": "NM_001198532.1",
"protein_id": "NP_001185461.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 874,
"cds_start": 617,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198532.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.617A>C",
"hgvs_p": "p.Glu206Ala",
"transcript": "ENST00000442977.6",
"protein_id": "ENSP00000405424.2",
"transcript_support_level": 2,
"aa_start": 206,
"aa_end": null,
"aa_length": 874,
"cds_start": 617,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442977.6"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Glu205Ala",
"transcript": "NM_018002.3",
"protein_id": "NP_060472.2",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 846,
"cds_start": 614,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018002.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Glu205Ala",
"transcript": "ENST00000531443.6",
"protein_id": "ENSP00000431966.1",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 846,
"cds_start": 614,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531443.6"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.Glu198Ala",
"transcript": "NM_181354.4",
"protein_id": "NP_851999.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 839,
"cds_start": 593,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181354.4"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.413A>C",
"hgvs_p": "p.Glu138Ala",
"transcript": "ENST00000497705.5",
"protein_id": "ENSP00000431014.1",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 503,
"cds_start": 413,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497705.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.Glu198Ala",
"transcript": "XM_017013589.3",
"protein_id": "XP_016869078.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 866,
"cds_start": 593,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013589.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.617A>C",
"hgvs_p": "p.Glu206Ala",
"transcript": "XM_006716595.3",
"protein_id": "XP_006716658.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 847,
"cds_start": 617,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716595.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.413A>C",
"hgvs_p": "p.Glu138Ala",
"transcript": "XM_017013590.2",
"protein_id": "XP_016869079.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 806,
"cds_start": 413,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013590.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.407A>C",
"hgvs_p": "p.Glu136Ala",
"transcript": "XM_017013591.2",
"protein_id": "XP_016869080.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 804,
"cds_start": 407,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013591.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Glu135Ala",
"transcript": "XM_017013592.2",
"protein_id": "XP_016869081.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 803,
"cds_start": 404,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013592.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.350A>C",
"hgvs_p": "p.Glu117Ala",
"transcript": "XM_017013593.3",
"protein_id": "XP_016869082.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 785,
"cds_start": 350,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013593.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.413A>C",
"hgvs_p": "p.Glu138Ala",
"transcript": "XM_047421918.1",
"protein_id": "XP_047277874.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 779,
"cds_start": 413,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421918.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.407A>C",
"hgvs_p": "p.Glu136Ala",
"transcript": "XM_047421919.1",
"protein_id": "XP_047277875.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 777,
"cds_start": 407,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421919.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Glu135Ala",
"transcript": "XM_047421920.1",
"protein_id": "XP_047277876.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 776,
"cds_start": 404,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421920.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.82A>C",
"hgvs_p": "p.Arg28Arg",
"transcript": "XM_047421921.1",
"protein_id": "XP_047277877.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 634,
"cds_start": 82,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421921.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.82A>C",
"hgvs_p": "p.Arg28Arg",
"transcript": "XM_047421922.1",
"protein_id": "XP_047277878.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 607,
"cds_start": 82,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421922.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
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"biotype": "pseudogene",
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{
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"strand": true,
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"non_coding_transcript_exon_variant"
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{
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"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 11,
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"gene_symbol": "OXR1",
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"biotype": "pseudogene",
"feature": "XR_007060735.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "OXR1",
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"hgvs_c": "n.199+34631A>C",
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"transcript": "ENST00000435082.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000435082.1"
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],
"gene_symbol": "OXR1",
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"dbsnp": "rs199555068",
"frequency_reference_population": 0.00013946672,
"hom_count_reference_population": 0,
"allele_count_reference_population": 224,
"gnomad_exomes_af": 0.000145773,
"gnomad_genomes_af": 0.0000790493,
"gnomad_exomes_ac": 212,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39361485838890076,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.414,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7705,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.942,
"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": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001198532.1",
"gene_symbol": "OXR1",
"hgnc_id": 15822,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.617A>C",
"hgvs_p": "p.Glu206Ala"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}