← Back to variant description
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: 12-49494790-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49494790&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 49494790,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_023071.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "NM_023071.4",
"protein_id": "NP_075559.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000552918.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023071.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000552918.6",
"protein_id": "ENSP00000447947.2",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552918.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000321898.10",
"protein_id": "ENSP00000326841.6",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321898.10"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000553127.5",
"protein_id": "ENSP00000448228.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553127.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "NM_001293285.2",
"protein_id": "NP_001280214.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293285.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "NM_001293286.2",
"protein_id": "NP_001280215.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293286.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000903511.1",
"protein_id": "ENSP00000573570.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903511.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000903512.1",
"protein_id": "ENSP00000573571.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903512.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000903513.1",
"protein_id": "ENSP00000573572.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903513.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000903514.1",
"protein_id": "ENSP00000573573.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903514.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000932995.1",
"protein_id": "ENSP00000603054.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932995.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000932996.1",
"protein_id": "ENSP00000603055.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932996.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000932997.1",
"protein_id": "ENSP00000603056.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932997.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000933000.1",
"protein_id": "ENSP00000603059.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933000.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000933002.1",
"protein_id": "ENSP00000603061.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933002.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000952610.1",
"protein_id": "ENSP00000622669.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952610.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Gly102Asp",
"transcript": "ENST00000933001.1",
"protein_id": "ENSP00000603060.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 542,
"cds_start": 305,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933001.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000933004.1",
"protein_id": "ENSP00000603063.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 541,
"cds_start": 302,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933004.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Gly52Asp",
"transcript": "ENST00000933003.1",
"protein_id": "ENSP00000603062.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 492,
"cds_start": 155,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933003.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Gly52Asp",
"transcript": "ENST00000952609.1",
"protein_id": "ENSP00000622668.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 492,
"cds_start": 155,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952609.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000932998.1",
"protein_id": "ENSP00000603057.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 486,
"cds_start": 314,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932998.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "ENST00000932999.1",
"protein_id": "ENSP00000603058.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 486,
"cds_start": 314,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932999.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_011538691.4",
"protein_id": "XP_011536993.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538691.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429404.1",
"protein_id": "XP_047285360.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429404.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429405.1",
"protein_id": "XP_047285361.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429405.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429406.1",
"protein_id": "XP_047285362.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429406.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429407.1",
"protein_id": "XP_047285363.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429407.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429408.1",
"protein_id": "XP_047285364.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429408.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429409.1",
"protein_id": "XP_047285365.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429409.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429410.1",
"protein_id": "XP_047285366.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 545,
"cds_start": 314,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429410.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Asp",
"transcript": "XM_047429411.1",
"protein_id": "XP_047285367.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 476,
"cds_start": 107,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429411.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_017019840.3",
"protein_id": "XP_016875329.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 455,
"cds_start": 314,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019840.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_024449135.2",
"protein_id": "XP_024304903.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 455,
"cds_start": 314,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449135.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429412.1",
"protein_id": "XP_047285368.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 455,
"cds_start": 314,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429412.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429413.1",
"protein_id": "XP_047285369.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 295,
"cds_start": 314,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429413.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429414.1",
"protein_id": "XP_047285370.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 295,
"cds_start": 314,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429414.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"transcript": "XM_047429415.1",
"protein_id": "XP_047285371.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 295,
"cds_start": 314,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "n.*221G>A",
"hgvs_p": null,
"transcript": "ENST00000549045.5",
"protein_id": "ENSP00000449431.1",
"transcript_support_level": 3,
"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": "ENST00000549045.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "n.314G>A",
"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": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "n.143G>A",
"hgvs_p": null,
"transcript": "ENST00000552557.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000552557.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "n.293G>A",
"hgvs_p": null,
"transcript": "ENST00000552655.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000552655.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "n.746G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_120663.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "n.*221G>A",
"hgvs_p": null,
"transcript": "ENST00000549045.5",
"protein_id": "ENSP00000449431.1",
"transcript_support_level": 3,
"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": "ENST00000549045.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.*19G>A",
"hgvs_p": null,
"transcript": "ENST00000550997.5",
"protein_id": "ENSP00000449406.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": null,
"cds_end": null,
"cds_length": 295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550997.5"
}
],
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"dbsnp": "rs1482915302",
"frequency_reference_population": 0.00002173122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000205655,
"gnomad_genomes_af": 0.0000329316,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03755858540534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0802,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.758,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "NM_023071.4",
"gene_symbol": "SPATS2",
"hgnc_id": 18650,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp"
}
],
"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
}