← 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: 14-24236089-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24236089&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24236089,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001002002.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.414T>G",
"hgvs_p": "p.Phe138Leu",
"transcript": "NM_001002002.3",
"protein_id": "NP_001002002.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 348,
"cds_start": 414,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": "ENST00000399440.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.414T>G",
"hgvs_p": "p.Phe138Leu",
"transcript": "ENST00000399440.7",
"protein_id": "ENSP00000382369.2",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 348,
"cds_start": 414,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": "NM_001002002.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.468T>G",
"hgvs_p": "p.Phe156Leu",
"transcript": "ENST00000557854.5",
"protein_id": "ENSP00000454038.1",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 427,
"cds_start": 468,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.468T>G",
"hgvs_p": "p.Phe156Leu",
"transcript": "ENST00000420554.6",
"protein_id": "ENSP00000392859.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 366,
"cds_start": 468,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.414T>G",
"hgvs_p": "p.Phe138Leu",
"transcript": "ENST00000355299.8",
"protein_id": "ENSP00000347449.4",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 348,
"cds_start": 414,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.414T>G",
"hgvs_p": "p.Phe138Leu",
"transcript": "ENST00000559836.5",
"protein_id": "ENSP00000453299.1",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 348,
"cds_start": 414,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Phe110Leu",
"transcript": "ENST00000456667.7",
"protein_id": "ENSP00000405743.3",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 320,
"cds_start": 330,
"cds_end": null,
"cds_length": 963,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 1484,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*181T>G",
"hgvs_p": null,
"transcript": "ENST00000559287.5",
"protein_id": "ENSP00000453594.1",
"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": 1748,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*336T>G",
"hgvs_p": null,
"transcript": "ENST00000561038.5",
"protein_id": "ENSP00000452670.1",
"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": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*181T>G",
"hgvs_p": null,
"transcript": "ENST00000559287.5",
"protein_id": "ENSP00000453594.1",
"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": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*336T>G",
"hgvs_p": null,
"transcript": "ENST00000561038.5",
"protein_id": "ENSP00000452670.1",
"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": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.-49T>G",
"hgvs_p": null,
"transcript": "ENST00000558865.5",
"protein_id": "ENSP00000454138.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.468T>G",
"hgvs_p": "p.Phe156Leu",
"transcript": "NM_001283022.2",
"protein_id": "NP_001269951.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 427,
"cds_start": 468,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.414T>G",
"hgvs_p": "p.Phe138Leu",
"transcript": "NM_001351022.2",
"protein_id": "NP_001337951.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 409,
"cds_start": 414,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.414T>G",
"hgvs_p": "p.Phe138Leu",
"transcript": "NM_001351023.2",
"protein_id": "NP_001337952.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 409,
"cds_start": 414,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.306T>G",
"hgvs_p": "p.Phe102Leu",
"transcript": "NM_001283021.2",
"protein_id": "NP_001269950.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 373,
"cds_start": 306,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.468T>G",
"hgvs_p": "p.Phe156Leu",
"transcript": "NM_016576.5",
"protein_id": "NP_057660.2",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 366,
"cds_start": 468,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.414T>G",
"hgvs_p": "p.Phe138Leu",
"transcript": "NM_001002000.3",
"protein_id": "NP_001002000.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 348,
"cds_start": 414,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.414T>G",
"hgvs_p": "p.Phe138Leu",
"transcript": "NM_001002001.3",
"protein_id": "NP_001002001.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 348,
"cds_start": 414,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Phe110Leu",
"transcript": "NM_001283023.2",
"protein_id": "NP_001269952.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 320,
"cds_start": 330,
"cds_end": null,
"cds_length": 963,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.306T>G",
"hgvs_p": "p.Phe102Leu",
"transcript": "NM_001351024.2",
"protein_id": "NP_001337953.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 312,
"cds_start": 306,
"cds_end": null,
"cds_length": 939,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.306T>G",
"hgvs_p": "p.Phe102Leu",
"transcript": "NM_001351025.2",
"protein_id": "NP_001337954.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 312,
"cds_start": 306,
"cds_end": null,
"cds_length": 939,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.306T>G",
"hgvs_p": "p.Phe102Leu",
"transcript": "NM_001351026.2",
"protein_id": "NP_001337955.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 312,
"cds_start": 306,
"cds_end": null,
"cds_length": 939,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.543T>G",
"hgvs_p": "p.Phe181Leu",
"transcript": "ENST00000561035.5",
"protein_id": "ENSP00000454009.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 238,
"cds_start": 543,
"cds_end": null,
"cds_length": 719,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.402T>G",
"hgvs_p": "p.Phe134Leu",
"transcript": "ENST00000559409.5",
"protein_id": "ENSP00000453761.1",
"transcript_support_level": 3,
"aa_start": 134,
"aa_end": null,
"aa_length": 150,
"cds_start": 402,
"cds_end": null,
"cds_length": 453,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 601,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.570T>G",
"hgvs_p": null,
"transcript": "ENST00000559606.1",
"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": 732,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*336T>G",
"hgvs_p": null,
"transcript": "ENST00000561130.5",
"protein_id": "ENSP00000453560.1",
"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": 842,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.670T>G",
"hgvs_p": null,
"transcript": "NR_104265.2",
"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": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.-49T>G",
"hgvs_p": null,
"transcript": "ENST00000558865.5",
"protein_id": "ENSP00000454138.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*336T>G",
"hgvs_p": null,
"transcript": "ENST00000561130.5",
"protein_id": "ENSP00000453560.1",
"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": 842,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.420+48T>G",
"hgvs_p": null,
"transcript": "ENST00000559104.5",
"protein_id": "ENSP00000453355.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": -4,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1719,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.366+48T>G",
"hgvs_p": null,
"transcript": "ENST00000559910.5",
"protein_id": "ENSP00000453537.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1562,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.366+48T>G",
"hgvs_p": null,
"transcript": "ENST00000560139.5",
"protein_id": "ENSP00000453714.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": -4,
"cds_end": null,
"cds_length": 395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.-7T>G",
"hgvs_p": null,
"transcript": "ENST00000558483.5",
"protein_id": "ENSP00000453139.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.*79T>G",
"hgvs_p": null,
"transcript": "ENST00000558279.5",
"protein_id": "ENSP00000453079.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*336T>G",
"hgvs_p": null,
"transcript": "ENST00000558760.5",
"protein_id": "ENSP00000452840.1",
"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": 817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*181T>G",
"hgvs_p": null,
"transcript": "ENST00000559102.1",
"protein_id": "ENSP00000453895.1",
"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": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"dbsnp": "rs74976241",
"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": 0.7942862510681152,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.663,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9699,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.023,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001002002.3",
"gene_symbol": "GMPR2",
"hgnc_id": 4377,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.414T>G",
"hgvs_p": "p.Phe138Leu"
}
],
"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
}