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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: 12-49484638-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49484638&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 49484638,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_023071.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "NM_023071.4",
"protein_id": "NP_075559.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": "ENST00000552918.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023071.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000552918.6",
"protein_id": "ENSP00000447947.2",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": "NM_023071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552918.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000321898.10",
"protein_id": "ENSP00000326841.6",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321898.10"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000553127.5",
"protein_id": "ENSP00000448228.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553127.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "NM_001293285.2",
"protein_id": "NP_001280214.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293285.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "NM_001293286.2",
"protein_id": "NP_001280215.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293286.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000903511.1",
"protein_id": "ENSP00000573570.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903511.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000903512.1",
"protein_id": "ENSP00000573571.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903512.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000903513.1",
"protein_id": "ENSP00000573572.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903513.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000903514.1",
"protein_id": "ENSP00000573573.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903514.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000932995.1",
"protein_id": "ENSP00000603054.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932995.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000932996.1",
"protein_id": "ENSP00000603055.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932996.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000932997.1",
"protein_id": "ENSP00000603056.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932997.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000933000.1",
"protein_id": "ENSP00000603059.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
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"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933000.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000933002.1",
"protein_id": "ENSP00000603061.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933002.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000952610.1",
"protein_id": "ENSP00000622669.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 545,
"cds_start": 74,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952610.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000933001.1",
"protein_id": "ENSP00000603060.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 542,
"cds_start": 74,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933001.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000933004.1",
"protein_id": "ENSP00000603063.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 541,
"cds_start": 74,
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"cdna_start": 496,
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"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933004.1"
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000933003.1",
"protein_id": "ENSP00000603062.1",
"transcript_support_level": null,
"aa_start": 25,
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"aa_length": 492,
"cds_start": 74,
"cds_end": null,
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"cdna_start": 531,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933003.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000952609.1",
"protein_id": "ENSP00000622668.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 492,
"cds_start": 74,
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"cdna_start": 396,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952609.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000932998.1",
"protein_id": "ENSP00000603057.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 486,
"cds_start": 74,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932998.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg",
"transcript": "ENST00000932999.1",
"protein_id": "ENSP00000603058.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 486,
"cds_start": 74,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 522,
"cdna_end": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000549375.5"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "n.74A>G",
"hgvs_p": null,
"transcript": "ENST00000549412.5",
"protein_id": "ENSP00000448459.1",
"transcript_support_level": 2,
"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": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549412.5"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "n.506A>G",
"hgvs_p": null,
"transcript": "NR_120663.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_120663.2"
},
{
"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": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.*43A>G",
"hgvs_p": null,
"transcript": "ENST00000552171.1",
"protein_id": "ENSP00000448174.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 9,
"cds_start": null,
"cds_end": null,
"cds_length": 31,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552171.1"
}
],
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"dbsnp": "rs749492187",
"frequency_reference_population": 0.0000074347786,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000061571,
"gnomad_genomes_af": 0.0000196969,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15419471263885498,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.197,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.461,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_023071.4",
"gene_symbol": "SPATS2",
"hgnc_id": 18650,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Gln25Arg"
}
],
"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
}