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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: 17-7313598-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7313598&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7313598,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004489.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala",
"transcript": "NM_004489.5",
"protein_id": "NP_004480.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 327,
"cds_start": 604,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380728.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004489.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala",
"transcript": "ENST00000380728.7",
"protein_id": "ENSP00000370104.2",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 327,
"cds_start": 604,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004489.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380728.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala",
"transcript": "ENST00000389167.9",
"protein_id": "ENSP00000379841.4",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 327,
"cds_start": 604,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389167.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "n.1109C>G",
"hgvs_p": null,
"transcript": "ENST00000571569.5",
"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": "ENST00000571569.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261915",
"gene_hgnc_id": null,
"hgvs_c": "n.*879C>G",
"hgvs_p": null,
"transcript": "ENST00000575474.1",
"protein_id": "ENSP00000468772.1",
"transcript_support_level": 5,
"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": "ENST00000575474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261915",
"gene_hgnc_id": null,
"hgvs_c": "n.*879C>G",
"hgvs_p": null,
"transcript": "ENST00000575474.1",
"protein_id": "ENSP00000468772.1",
"transcript_support_level": 5,
"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": "ENST00000575474.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala",
"transcript": "ENST00000965310.1",
"protein_id": "ENSP00000635369.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 330,
"cds_start": 604,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965310.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.610C>G",
"hgvs_p": "p.Pro204Ala",
"transcript": "ENST00000965309.1",
"protein_id": "ENSP00000635368.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 329,
"cds_start": 610,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965309.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.673C>G",
"hgvs_p": "p.Pro225Ala",
"transcript": "ENST00000570780.5",
"protein_id": "ENSP00000460836.1",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 326,
"cds_start": 673,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570780.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.598C>G",
"hgvs_p": "p.Pro200Ala",
"transcript": "ENST00000965311.1",
"protein_id": "ENSP00000635370.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 325,
"cds_start": 598,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965311.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "ENST00000965307.1",
"protein_id": "ENSP00000635366.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 324,
"cds_start": 595,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965307.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "ENST00000965308.1",
"protein_id": "ENSP00000635367.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 324,
"cds_start": 595,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965308.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala",
"transcript": "ENST00000896392.1",
"protein_id": "ENSP00000566451.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 305,
"cds_start": 604,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896392.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala",
"transcript": "ENST00000912640.1",
"protein_id": "ENSP00000582699.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 297,
"cds_start": 604,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912640.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala",
"transcript": "ENST00000912639.1",
"protein_id": "ENSP00000582698.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 295,
"cds_start": 604,
"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": "ENST00000912639.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Pro162Ala",
"transcript": "ENST00000896390.1",
"protein_id": "ENSP00000566449.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 287,
"cds_start": 484,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896390.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala",
"transcript": "ENST00000577040.2",
"protein_id": "ENSP00000461624.2",
"transcript_support_level": 5,
"aa_start": 202,
"aa_end": null,
"aa_length": 258,
"cds_start": 604,
"cds_end": null,
"cds_length": 778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577040.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.124C>G",
"hgvs_p": "p.Pro42Ala",
"transcript": "ENST00000573684.5",
"protein_id": "ENSP00000458837.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 158,
"cds_start": 124,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573684.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.398-307C>G",
"hgvs_p": null,
"transcript": "ENST00000896391.1",
"protein_id": "ENSP00000566450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896391.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "c.398-307C>G",
"hgvs_p": null,
"transcript": "ENST00000896393.1",
"protein_id": "ENSP00000566452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261915",
"gene_hgnc_id": null,
"hgvs_c": "n.*879C>G",
"hgvs_p": null,
"transcript": "ENST00000315601.8",
"protein_id": "ENSP00000468744.1",
"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": "ENST00000315601.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "GPS2",
"gene_hgnc_id": 4550,
"hgvs_c": "n.1022C>G",
"hgvs_p": null,
"transcript": "ENST00000571098.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000571098.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 8,
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"gene_symbol": "GPS2",
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"biotype": "retained_intron",
"feature": "ENST00000571697.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 9,
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"gene_symbol": "GPS2",
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"transcript": "ENST00000572172.5",
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"biotype": "retained_intron",
"feature": "ENST00000572172.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 6,
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"gene_symbol": "GPS2",
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"hgvs_c": "n.1023C>G",
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"transcript": "ENST00000572363.5",
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"biotype": "retained_intron",
"feature": "ENST00000572363.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
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"gene_symbol": "GPS2",
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"hgvs_c": "n.160C>G",
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"transcript": "ENST00000573807.5",
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"biotype": "retained_intron",
"feature": "ENST00000573807.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
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"exon_count": 19,
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"gene_symbol": "ENSG00000261915",
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"hgvs_c": "n.*879C>G",
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"transcript": "ENST00000315601.8",
"protein_id": "ENSP00000468744.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000315601.8"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "GPS2",
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"hgvs_c": "n.*72C>G",
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"transcript": "ENST00000572707.5",
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"biotype": "retained_intron",
"feature": "ENST00000572707.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "GPS2",
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"hgvs_c": "n.*68C>G",
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"transcript": "ENST00000573059.5",
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"transcript_support_level": 3,
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"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": "ENST00000573059.5"
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],
"gene_symbol": "GPS2",
"gene_hgnc_id": 4550,
"dbsnp": "rs376328573",
"frequency_reference_population": 0.000030359995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.000028731,
"gnomad_genomes_af": 0.0000460139,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08018884062767029,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.082,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.937,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004489.5",
"gene_symbol": "GPS2",
"hgnc_id": 4550,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000575474.1",
"gene_symbol": "ENSG00000261915",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*879C>G",
"hgvs_p": null
}
],
"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
}