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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: 6-127286675-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=127286675&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 127286675,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000368314.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Ala21Val",
"transcript": "NM_001242850.2",
"protein_id": "NP_001229779.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 359,
"cds_start": 62,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": "ENST00000368314.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Ala21Val",
"transcript": "ENST00000368314.6",
"protein_id": "ENSP00000357297.1",
"transcript_support_level": 2,
"aa_start": 21,
"aa_end": null,
"aa_length": 359,
"cds_start": 62,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": "NM_001242850.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Ala21Val",
"transcript": "NM_001242849.2",
"protein_id": "NP_001229778.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 359,
"cds_start": 62,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Ala21Val",
"transcript": "NM_001242851.1",
"protein_id": "NP_001229780.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 359,
"cds_start": 62,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Ala21Val",
"transcript": "ENST00000610153.1",
"protein_id": "ENSP00000476814.1",
"transcript_support_level": 2,
"aa_start": 21,
"aa_end": null,
"aa_length": 359,
"cds_start": 62,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_001242844.2",
"protein_id": "NP_001229773.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_001242845.2",
"protein_id": "NP_001229774.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_001242846.2",
"protein_id": "NP_001229775.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_001242847.2",
"protein_id": "NP_001229776.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_001242848.2",
"protein_id": "NP_001229777.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_001242852.2",
"protein_id": "NP_001229781.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_030963.4",
"protein_id": "NP_112225.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
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"cdna_start": 469,
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"cdna_length": 2356,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000608991.5",
"protein_id": "ENSP00000477168.1",
"transcript_support_level": 4,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
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"cdna_start": 482,
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"cdna_length": 2169,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Ala21Val",
"transcript": "XM_017011336.3",
"protein_id": "XP_016866825.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "XM_011536161.4",
"protein_id": "XP_011534463.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
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"cdna_start": 558,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "XM_011536163.4",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "XM_011536164.4",
"protein_id": "XP_011534466.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "XM_047419386.1",
"protein_id": "XP_047275342.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 358,
"cds_start": 59,
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"cdna_start": 2240,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "XM_047419387.1",
"protein_id": "XP_047275343.1",
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"cdna_start": 3422,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "XM_047419388.1",
"protein_id": "XP_047275344.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "XM_047419389.1",
"protein_id": "XP_047275345.1",
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"cdna_start": 2381,
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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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "n.668C>T",
"hgvs_p": null,
"transcript": "ENST00000476956.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "n.588C>T",
"hgvs_p": null,
"transcript": "ENST00000477776.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "n.615C>T",
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"transcript": "ENST00000480444.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "n.332C>T",
"hgvs_p": null,
"transcript": "ENST00000489534.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 610,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.*67C>T",
"hgvs_p": null,
"transcript": "ENST00000356799.6",
"protein_id": "ENSP00000349253.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2267,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"hgvs_c": "c.*32C>T",
"hgvs_p": null,
"transcript": "ENST00000610162.5",
"protein_id": "ENSP00000476888.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 8,
"cds_start": -4,
"cds_end": null,
"cds_length": 27,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF146",
"gene_hgnc_id": 21336,
"dbsnp": "rs758879979",
"frequency_reference_population": 0.000016120171,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000171125,
"gnomad_genomes_af": 0.00000658051,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06796252727508545,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0806,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.077,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000368314.6",
"gene_symbol": "RNF146",
"hgnc_id": 21336,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Ala21Val"
}
],
"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
}