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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: 3-149542448-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=149542448&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 149542448,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015472.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "NM_015472.6",
"protein_id": "NP_056287.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360632.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015472.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000360632.8",
"protein_id": "ENSP00000353847.3",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015472.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360632.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "NM_001168278.3",
"protein_id": "NP_001161750.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168278.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "NM_001168280.3",
"protein_id": "NP_001161752.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168280.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "NM_001348362.2",
"protein_id": "NP_001335291.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348362.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000465804.5",
"protein_id": "ENSP00000419465.1",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465804.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000467467.5",
"protein_id": "ENSP00000419234.1",
"transcript_support_level": 5,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467467.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000884350.1",
"protein_id": "ENSP00000554409.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884350.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000884351.1",
"protein_id": "ENSP00000554410.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884351.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000884352.1",
"protein_id": "ENSP00000554411.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884352.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000884353.1",
"protein_id": "ENSP00000554412.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884353.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000884354.1",
"protein_id": "ENSP00000554413.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884354.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000884357.1",
"protein_id": "ENSP00000554416.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884357.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000951294.1",
"protein_id": "ENSP00000621353.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951294.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000951297.1",
"protein_id": "ENSP00000621356.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951297.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000951298.1",
"protein_id": "ENSP00000621357.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 400,
"cds_start": 658,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951298.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000951295.1",
"protein_id": "ENSP00000621354.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 399,
"cds_start": 658,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951295.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Ser216Gly",
"transcript": "ENST00000884355.1",
"protein_id": "ENSP00000554414.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 396,
"cds_start": 646,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884355.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "ENST00000951296.1",
"protein_id": "ENSP00000621355.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 394,
"cds_start": 521,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951296.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000884356.1",
"protein_id": "ENSP00000554415.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 374,
"cds_start": 658,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884356.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000951299.1",
"protein_id": "ENSP00000621358.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 354,
"cds_start": 658,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951299.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Ser78Gly",
"transcript": "ENST00000472417.1",
"protein_id": "ENSP00000417339.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 246,
"cds_start": 232,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472417.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
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],
"exon_rank": 5,
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"gene_symbol": "WWTR1",
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"aa_length": 400,
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},
{
"aa_ref": "S",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "WWTR1",
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"transcript": "XM_047447930.1",
"protein_id": "XP_047303886.1",
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"feature": "XM_047447930.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 12,
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"gene_symbol": "WWTR1",
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"transcript": "XM_047447931.1",
"protein_id": "XP_047303887.1",
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"biotype": "protein_coding",
"feature": "XM_047447931.1"
},
{
"aa_ref": "S",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"gene_symbol": "WWTR1",
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"hgvs_p": "p.Ser220Gly",
"transcript": "XM_047447932.1",
"protein_id": "XP_047303888.1",
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"biotype": "protein_coding",
"feature": "XM_047447932.1"
},
{
"aa_ref": "S",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 12,
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"gene_symbol": "WWTR1",
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"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "XM_047447933.1",
"protein_id": "XP_047303889.1",
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"biotype": "protein_coding",
"feature": "XM_047447933.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "n.-9A>G",
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"transcript": "ENST00000485244.1",
"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": "retained_intron",
"feature": "ENST00000485244.1"
}
],
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04572048783302307,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0567,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.581,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015472.6",
"gene_symbol": "WWTR1",
"hgnc_id": 24042,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly"
}
],
"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
}