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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: 17-75627673-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75627673&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75627673,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004259.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Ala942Val",
"transcript": "NM_004259.7",
"protein_id": "NP_004250.4",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 991,
"cds_start": 2825,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317905.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004259.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Ala942Val",
"transcript": "ENST00000317905.10",
"protein_id": "ENSP00000317636.5",
"transcript_support_level": 1,
"aa_start": 942,
"aa_end": null,
"aa_length": 991,
"cds_start": 2825,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004259.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317905.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2744C>T",
"hgvs_p": "p.Ala915Val",
"transcript": "ENST00000423245.6",
"protein_id": "ENSP00000394820.2",
"transcript_support_level": 1,
"aa_start": 915,
"aa_end": null,
"aa_length": 964,
"cds_start": 2744,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423245.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "n.2361C>T",
"hgvs_p": null,
"transcript": "ENST00000443199.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000443199.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "n.448C>T",
"hgvs_p": null,
"transcript": "ENST00000578865.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000578865.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Ala942Val",
"transcript": "ENST00000919295.1",
"protein_id": "ENSP00000589354.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 991,
"cds_start": 2825,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919295.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Ala942Val",
"transcript": "ENST00000919296.1",
"protein_id": "ENSP00000589355.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 991,
"cds_start": 2825,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919296.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2822C>T",
"hgvs_p": "p.Ala941Val",
"transcript": "ENST00000941132.1",
"protein_id": "ENSP00000611191.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 990,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941132.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2771C>T",
"hgvs_p": "p.Ala924Val",
"transcript": "ENST00000910739.1",
"protein_id": "ENSP00000580798.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 973,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910739.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2690C>T",
"hgvs_p": "p.Ala897Val",
"transcript": "ENST00000941133.1",
"protein_id": "ENSP00000611192.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 946,
"cds_start": 2690,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941133.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2489C>T",
"hgvs_p": "p.Ala830Val",
"transcript": "ENST00000919294.1",
"protein_id": "ENSP00000589353.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 879,
"cds_start": 2489,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919294.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2426C>T",
"hgvs_p": "p.Ala809Val",
"transcript": "ENST00000910741.1",
"protein_id": "ENSP00000580800.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 858,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910741.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2027C>T",
"hgvs_p": "p.Ala676Val",
"transcript": "ENST00000910740.1",
"protein_id": "ENSP00000580799.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 725,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910740.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2888C>T",
"hgvs_p": "p.Ala963Val",
"transcript": "XM_005257818.5",
"protein_id": "XP_005257875.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257818.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Ala942Val",
"transcript": "XM_047437085.1",
"protein_id": "XP_047293041.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 991,
"cds_start": 2825,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437085.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1751C>T",
"hgvs_p": "p.Ala584Val",
"transcript": "XM_047437086.1",
"protein_id": "XP_047293042.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 633,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437086.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1751C>T",
"hgvs_p": "p.Ala584Val",
"transcript": "XM_047437087.1",
"protein_id": "XP_047293043.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 633,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437087.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ala569Val",
"transcript": "XM_011525484.2",
"protein_id": "XP_011523786.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 618,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525484.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1688C>T",
"hgvs_p": "p.Ala563Val",
"transcript": "XM_011525485.3",
"protein_id": "XP_011523787.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 612,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525485.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1688C>T",
"hgvs_p": "p.Ala563Val",
"transcript": "XM_047437088.1",
"protein_id": "XP_047293044.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 612,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437088.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"transcript": "XM_006722186.2",
"protein_id": "XP_006722249.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 607,
"cds_start": 1673,
"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_006722186.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1643C>T",
"hgvs_p": "p.Ala548Val",
"transcript": "XM_047437089.1",
"protein_id": "XP_047293045.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 597,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437089.1"
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{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "RECQL5",
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"hgvs_c": "c.1610C>T",
"hgvs_p": "p.Ala537Val",
"transcript": "XM_005257822.5",
"protein_id": "XP_005257879.1",
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"aa_start": 537,
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"aa_length": 586,
"cds_start": 1610,
"cds_end": null,
"cds_length": 1761,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257822.5"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1610C>T",
"hgvs_p": "p.Ala537Val",
"transcript": "XM_047437090.1",
"protein_id": "XP_047293046.1",
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"aa_start": 537,
"aa_end": null,
"aa_length": 586,
"cds_start": 1610,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437090.1"
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Ala452Val",
"transcript": "XM_011525486.3",
"protein_id": "XP_011523788.1",
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"aa_start": 452,
"aa_end": null,
"aa_length": 501,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525486.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.478-449C>T",
"hgvs_p": null,
"transcript": "ENST00000581825.1",
"protein_id": "ENSP00000462678.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581825.1"
}
],
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"dbsnp": "rs199824535",
"frequency_reference_population": 0.000050963776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000514826,
"gnomad_genomes_af": 0.0000459976,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8392611145973206,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.719,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7192,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.855,
"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_004259.7",
"gene_symbol": "RECQL5",
"hgnc_id": 9950,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Ala942Val"
}
],
"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
}