← 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: 17-75239537-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75239537&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GGA3",
"hgnc_id": 17079,
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Leu540Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_138619.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0612,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14564645290374756,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 723,
"aa_ref": "L",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_138619.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Leu540Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000537686.6",
"protein_coding": true,
"protein_id": "NP_619525.1",
"strand": false,
"transcript": "NM_138619.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 723,
"aa_ref": "L",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000537686.6",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Leu540Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138619.4",
"protein_coding": true,
"protein_id": "ENSP00000438085.3",
"strand": false,
"transcript": "ENST00000537686.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 690,
"aa_ref": "L",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000538886.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1519C>T",
"hgvs_p": "p.Leu507Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446421.2",
"strand": false,
"transcript": "ENST00000538886.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000621870.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.*1577C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000479464.1",
"strand": false,
"transcript": "ENST00000621870.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000621870.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.*1577C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000479464.1",
"strand": false,
"transcript": "ENST00000621870.4",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 723,
"aa_ref": "L",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000924703.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Leu540Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594762.1",
"strand": false,
"transcript": "ENST00000924703.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 721,
"aa_ref": "L",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000924699.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Leu540Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594758.1",
"strand": false,
"transcript": "ENST00000924699.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 716,
"aa_ref": "L",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3839,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000924706.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Leu540Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594765.1",
"strand": false,
"transcript": "ENST00000924706.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 701,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000955609.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625668.1",
"strand": false,
"transcript": "ENST00000955609.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 690,
"aa_ref": "L",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_014001.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1519C>T",
"hgvs_p": "p.Leu507Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_054720.1",
"strand": false,
"transcript": "NM_014001.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 688,
"aa_ref": "L",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000924705.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1519C>T",
"hgvs_p": "p.Leu507Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594764.1",
"strand": false,
"transcript": "ENST00000924705.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 668,
"aa_ref": "L",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000924704.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1453C>T",
"hgvs_p": "p.Leu485Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594763.1",
"strand": false,
"transcript": "ENST00000924704.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 662,
"aa_ref": "L",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000924701.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Leu479Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594760.1",
"strand": false,
"transcript": "ENST00000924701.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 651,
"aa_ref": "L",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1402,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001172703.3",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1402C>T",
"hgvs_p": "p.Leu468Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166174.1",
"strand": false,
"transcript": "NM_001172703.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 651,
"aa_ref": "L",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1402,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001291641.2",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1402C>T",
"hgvs_p": "p.Leu468Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278570.1",
"strand": false,
"transcript": "NM_001291641.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 651,
"aa_ref": "L",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1402,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000582717.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1402C>T",
"hgvs_p": "p.Leu468Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462081.1",
"strand": false,
"transcript": "ENST00000582717.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 649,
"aa_ref": "L",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000878323.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Leu466Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548382.1",
"strand": false,
"transcript": "ENST00000878323.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 632,
"aa_ref": "L",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 1658,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1402,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000582486.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1402C>T",
"hgvs_p": "p.Leu468Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462629.1",
"strand": false,
"transcript": "ENST00000582486.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 629,
"aa_ref": "L",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000924707.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Leu446Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594766.1",
"strand": false,
"transcript": "ENST00000924707.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 602,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000924698.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Leu419Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594757.1",
"strand": false,
"transcript": "ENST00000924698.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 601,
"aa_ref": "L",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001291642.2",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Leu418Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278571.1",
"strand": false,
"transcript": "NM_001291642.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 592,
"aa_ref": "L",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001172704.3",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Leu418Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166175.1",
"strand": false,
"transcript": "NM_001172704.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 592,
"aa_ref": "L",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000578348.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Leu418Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463288.1",
"strand": false,
"transcript": "ENST00000578348.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 574,
"aa_ref": "L",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3424,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924700.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Leu391Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594759.1",
"strand": false,
"transcript": "ENST00000924700.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924702.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1584-26C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594761.1",
"strand": false,
"transcript": "ENST00000924702.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 623,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": null,
"cds_end": null,
"cds_length": 1872,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955610.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.1484+252C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625669.1",
"strand": false,
"transcript": "ENST00000955610.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 432,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000578773.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.13C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464268.1",
"strand": false,
"transcript": "ENST00000578773.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 829,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000580646.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.1C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464574.1",
"strand": false,
"transcript": "ENST00000580646.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 598,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000584550.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.7C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462279.1",
"strand": false,
"transcript": "ENST00000584550.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5156,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000613421.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.2925C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000613421.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000614198.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.914C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000614198.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000621217.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.*1451C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000484733.1",
"strand": false,
"transcript": "ENST00000621217.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000649398.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.1618C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496890.1",
"strand": false,
"transcript": "ENST00000649398.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000621217.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.*1451C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000484733.1",
"strand": false,
"transcript": "ENST00000621217.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 531,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000583667.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.416+252C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000583667.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1004521080",
"effect": "missense_variant",
"frequency_reference_population": 0.0000014169203,
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000141692,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.36,
"pos": 75239537,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.025,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_138619.4"
}
]
}