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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: 1-155660148-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155660148&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155660148,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001198903.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Ile588Val",
"transcript": "NM_139119.3",
"protein_id": "NP_620830.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 750,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355499.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139119.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Ile588Val",
"transcript": "ENST00000355499.9",
"protein_id": "ENSP00000347686.4",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 750,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139119.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355499.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.2116A>G",
"hgvs_p": "p.Ile706Val",
"transcript": "ENST00000368340.10",
"protein_id": "ENSP00000357324.5",
"transcript_support_level": 1,
"aa_start": 706,
"aa_end": null,
"aa_length": 868,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368340.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Ile588Val",
"transcript": "ENST00000347088.9",
"protein_id": "ENSP00000316079.6",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 750,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347088.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Ile588Val",
"transcript": "ENST00000368330.6",
"protein_id": "ENSP00000357314.2",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 750,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368330.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1729A>G",
"hgvs_p": "p.Ile577Val",
"transcript": "ENST00000359205.9",
"protein_id": "ENSP00000352134.5",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 739,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359205.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1729A>G",
"hgvs_p": "p.Ile577Val",
"transcript": "ENST00000361831.9",
"protein_id": "ENSP00000355298.5",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 739,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361831.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Ile568Val",
"transcript": "ENST00000404643.5",
"protein_id": "ENSP00000385390.1",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 730,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404643.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.*1260A>G",
"hgvs_p": null,
"transcript": "ENST00000361140.8",
"protein_id": "ENSP00000354716.4",
"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": "ENST00000361140.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.*1771A>G",
"hgvs_p": null,
"transcript": "ENST00000436865.5",
"protein_id": "ENSP00000390116.1",
"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": "ENST00000436865.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.*1260A>G",
"hgvs_p": null,
"transcript": "ENST00000361140.8",
"protein_id": "ENSP00000354716.4",
"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": "ENST00000361140.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.*1771A>G",
"hgvs_p": null,
"transcript": "ENST00000436865.5",
"protein_id": "ENSP00000390116.1",
"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": "ENST00000436865.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.2176A>G",
"hgvs_p": "p.Ile726Val",
"transcript": "NM_001198903.1",
"protein_id": "NP_001185832.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 888,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198903.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.2176A>G",
"hgvs_p": "p.Ile726Val",
"transcript": "ENST00000368339.10",
"protein_id": "ENSP00000357323.5",
"transcript_support_level": 2,
"aa_start": 726,
"aa_end": null,
"aa_length": 888,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368339.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.2116A>G",
"hgvs_p": "p.Ile706Val",
"transcript": "NM_001198904.1",
"protein_id": "NP_001185833.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 868,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198904.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1960A>G",
"hgvs_p": "p.Ile654Val",
"transcript": "ENST00000715146.1",
"protein_id": "ENSP00000520347.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 816,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715146.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1900A>G",
"hgvs_p": "p.Ile634Val",
"transcript": "NM_139118.3",
"protein_id": "NP_620829.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 796,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139118.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1900A>G",
"hgvs_p": "p.Ile634Val",
"transcript": "ENST00000295566.8",
"protein_id": "ENSP00000295566.4",
"transcript_support_level": 2,
"aa_start": 634,
"aa_end": null,
"aa_length": 796,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295566.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Ile594Val",
"transcript": "ENST00000879241.1",
"protein_id": "ENSP00000549300.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 756,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879241.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Ile593Val",
"transcript": "ENST00000879235.1",
"protein_id": "ENSP00000549294.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 755,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879235.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Ile588Val",
"transcript": "NM_001198901.2",
"protein_id": "NP_001185830.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 750,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198901.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Ile588Val",
"transcript": "NM_001198902.2",
"protein_id": "NP_001185831.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 750,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2253,
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"exon_count": 9,
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"gene_symbol": "YY1AP1",
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"hgvs_c": "n.*937A>G",
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"transcript": "ENST00000715147.1",
"protein_id": "ENSP00000520348.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "YY1AP1",
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"hgvs_c": "n.*1492A>G",
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"transcript": "ENST00000715171.1",
"protein_id": "ENSP00000520367.1",
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"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": "ENST00000715171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
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"hgvs_c": "n.*3808A>G",
"hgvs_p": null,
"transcript": "ENST00000715172.1",
"protein_id": "ENSP00000520368.1",
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"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": "ENST00000715172.1"
}
],
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"dbsnp": "rs1414638464",
"frequency_reference_population": 0.0000018586693,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84047e-7,
"gnomad_genomes_af": 0.0000131432,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10517355799674988,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1857,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.408,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001198903.1",
"gene_symbol": "YY1AP1",
"hgnc_id": 30935,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2176A>G",
"hgvs_p": "p.Ile726Val"
}
],
"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
}