← 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: 19-17337643-AA-GTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17337643&ref=AA&alt=GTG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17337643,
"ref": "AA",
"alt": "GTG",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000324894.13",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "c.32_33delAAinsGTG",
"hgvs_p": "p.Gln11fs",
"transcript": "NM_032620.4",
"protein_id": "NP_116009.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 492,
"cds_start": 32,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": "ENST00000324894.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "c.32_33delAAinsGTG",
"hgvs_p": "p.Gln11fs",
"transcript": "ENST00000324894.13",
"protein_id": "ENSP00000313818.7",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 492,
"cds_start": 32,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": "NM_032620.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "c.32_33delAAinsGTG",
"hgvs_p": "p.Gln11fs",
"transcript": "ENST00000600625.5",
"protein_id": "ENSP00000473150.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 471,
"cds_start": 32,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 89,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.32_33delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000600610.5",
"protein_id": "ENSP00000469008.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "c.32_33delAAinsGTG",
"hgvs_p": "p.Gln11fs",
"transcript": "NM_133644.4",
"protein_id": "NP_598399.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 524,
"cds_start": 32,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "c.32_33delAAinsGTG",
"hgvs_p": "p.Gln11fs",
"transcript": "ENST00000358792.11",
"protein_id": "ENSP00000351644.6",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 524,
"cds_start": 32,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 89,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "c.32_33delAAinsGTG",
"hgvs_p": "p.Gln11fs",
"transcript": "NM_001128855.3",
"protein_id": "NP_001122327.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 471,
"cds_start": 32,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.32_33delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000594018.5",
"protein_id": "ENSP00000471421.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.58_59delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000596001.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.85_86delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000596166.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.32_33delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000598493.5",
"protein_id": "ENSP00000472156.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.26_27delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000599329.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.127_128delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000599429.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.32_33delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000602165.1",
"protein_id": "ENSP00000470109.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "c.120-365_120-364delAAinsGTG",
"hgvs_p": null,
"transcript": "NM_001195422.1",
"protein_id": "NP_001182351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "c.120-365_120-364delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000361619.9",
"protein_id": "ENSP00000354598.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.18+67_18+68delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000593297.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.467-365_467-364delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000594345.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.431-231_431-230delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000595951.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.298-365_298-364delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000596218.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.163-365_163-364delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000596941.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.853+67_853+68delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000598038.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.308-365_308-364delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000600995.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.109-365_109-364delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000601213.5",
"protein_id": "ENSP00000471657.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"hgvs_c": "n.18+67_18+68delAAinsGTG",
"hgvs_p": null,
"transcript": "ENST00000601261.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307319",
"gene_hgnc_id": null,
"hgvs_c": "n.162+272_162+273delTTinsCAC",
"hgvs_p": null,
"transcript": "ENST00000825048.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307319",
"gene_hgnc_id": null,
"hgvs_c": "n.-212_-211delTTinsCAC",
"hgvs_p": null,
"transcript": "ENST00000825049.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GTPBP3",
"gene_hgnc_id": 14880,
"dbsnp": "rs886037736",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.788,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000324894.13",
"gene_symbol": "GTPBP3",
"hgnc_id": 14880,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.32_33delAAinsGTG",
"hgvs_p": "p.Gln11fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000825048.1",
"gene_symbol": "ENSG00000307319",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.162+272_162+273delTTinsCAC",
"hgvs_p": null
}
],
"clinvar_disease": "Combined oxidative phosphorylation defect type 23",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Combined oxidative phosphorylation defect type 23",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}