← 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: 19-35009274-CT-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35009274&ref=CT&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GRAMD1A",
"hgnc_id": 29305,
"hgvs_c": "c.425_426delCTinsTG",
"hgvs_p": "p.Pro142Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001320036.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 320,
"cds_end": null,
"cds_length": 2175,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020895.5",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317991.10",
"protein_coding": true,
"protein_id": "NP_065946.2",
"strand": true,
"transcript": "NM_020895.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 320,
"cds_end": null,
"cds_length": 2175,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000317991.10",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020895.5",
"protein_coding": true,
"protein_id": "ENSP00000441032.1",
"strand": true,
"transcript": "ENST00000317991.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 807,
"aa_ref": "P",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 496,
"cds_end": null,
"cds_length": 2424,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599564.5",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.425_426delCTinsTG",
"hgvs_p": "p.Pro142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470220.1",
"strand": true,
"transcript": "ENST00000599564.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 806,
"aa_ref": "P",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 553,
"cds_end": null,
"cds_length": 2421,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320036.2",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.425_426delCTinsTG",
"hgvs_p": "p.Pro142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306965.1",
"strand": true,
"transcript": "NM_001320036.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 758,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2724,
"cdna_start": 293,
"cds_end": null,
"cds_length": 2277,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942874.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612933.1",
"strand": true,
"transcript": "ENST00000942874.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 733,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 338,
"cds_end": null,
"cds_length": 2202,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940004.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610063.1",
"strand": true,
"transcript": "ENST00000940004.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2172,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942865.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612924.1",
"strand": true,
"transcript": "ENST00000942865.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 720,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2647,
"cdna_start": 320,
"cds_end": null,
"cds_length": 2163,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320034.2",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306963.1",
"strand": true,
"transcript": "NM_001320034.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 720,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2647,
"cdna_start": 320,
"cds_end": null,
"cds_length": 2163,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680623.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505404.1",
"strand": true,
"transcript": "ENST00000680623.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 719,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 341,
"cds_end": null,
"cds_length": 2160,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942870.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612929.1",
"strand": true,
"transcript": "ENST00000942870.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 716,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 350,
"cds_end": null,
"cds_length": 2151,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942869.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612928.1",
"strand": true,
"transcript": "ENST00000942869.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 713,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 320,
"cds_end": null,
"cds_length": 2142,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001136199.3",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129671.1",
"strand": true,
"transcript": "NM_001136199.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 713,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 217,
"cds_end": null,
"cds_length": 2142,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000411896.6",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439267.1",
"strand": true,
"transcript": "ENST00000411896.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 306,
"cds_end": null,
"cds_length": 2133,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942873.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612932.1",
"strand": true,
"transcript": "ENST00000942873.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 703,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 322,
"cds_end": null,
"cds_length": 2112,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940005.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610064.1",
"strand": true,
"transcript": "ENST00000940005.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 702,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 361,
"cds_end": null,
"cds_length": 2109,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942867.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612926.1",
"strand": true,
"transcript": "ENST00000942867.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 702,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2109,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942871.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612930.1",
"strand": true,
"transcript": "ENST00000942871.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 698,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2097,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942866.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612925.1",
"strand": true,
"transcript": "ENST00000942866.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 672,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": 356,
"cds_end": null,
"cds_length": 2019,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942868.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612927.1",
"strand": true,
"transcript": "ENST00000942868.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": 308,
"cds_end": null,
"cds_length": 1998,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940006.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610065.1",
"strand": true,
"transcript": "ENST00000940006.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 526,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 322,
"cds_end": null,
"cds_length": 1581,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942872.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612931.1",
"strand": true,
"transcript": "ENST00000942872.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 205,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 808,
"cdna_start": 187,
"cds_end": null,
"cds_length": 618,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424536.2",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474401.1",
"strand": true,
"transcript": "ENST00000424536.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 811,
"aa_ref": "P",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 553,
"cds_end": null,
"cds_length": 2436,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011527153.2",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.425_426delCTinsTG",
"hgvs_p": "p.Pro142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525455.1",
"strand": true,
"transcript": "XM_011527153.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 807,
"aa_ref": "P",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 440,
"cds_end": null,
"cds_length": 2424,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017027035.2",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.425_426delCTinsTG",
"hgvs_p": "p.Pro142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882524.1",
"strand": true,
"transcript": "XM_017027035.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 622,
"cds_end": null,
"cds_length": 2190,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011527155.2",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.179_180delCTinsTG",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525457.1",
"strand": true,
"transcript": "XM_011527155.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2190,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439133.1",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.179_180delCTinsTG",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295089.1",
"strand": true,
"transcript": "XM_047439133.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 320,
"cds_end": null,
"cds_length": 2172,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011527149.3",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525451.1",
"strand": true,
"transcript": "XM_011527149.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 708,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 320,
"cds_end": null,
"cds_length": 2127,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017027034.3",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.164_165delCTinsTG",
"hgvs_p": "p.Pro55Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882523.1",
"strand": true,
"transcript": "XM_017027034.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 685,
"aa_ref": "P",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 267,
"cds_end": null,
"cds_length": 2058,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024451622.2",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.47_48delCTinsTG",
"hgvs_p": "p.Pro16Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307390.1",
"strand": true,
"transcript": "XM_024451622.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 486,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": null,
"cds_end": null,
"cds_length": 1461,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001320035.2",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "c.-426_-425delCTinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306964.1",
"strand": true,
"transcript": "NM_001320035.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 567,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000594597.5",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "n.206_207delCTinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000594597.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000598073.5",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "n.261_262delCTinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000598073.5",
"transcript_support_level": 3
},
{
"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": 2534,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000600231.5",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "n.164_165delCTinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000471290.1",
"strand": true,
"transcript": "ENST00000600231.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 552,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000603669.5",
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"hgvs_c": "n.474_475delCTinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000603669.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29305,
"gene_symbol": "GRAMD1A",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": 2.261,
"pos": 35009274,
"ref": "CT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001320036.2"
}
]
}