← 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: 16-74661180-AGT-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=74661180&ref=AGT&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RFWD3",
"hgnc_id": 25539,
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_018124.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4948,
"cdna_start": 364,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018124.4",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361070.9",
"protein_coding": true,
"protein_id": "NP_060594.3",
"strand": false,
"transcript": "NM_018124.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4948,
"cdna_start": 364,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361070.9",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018124.4",
"protein_coding": true,
"protein_id": "ENSP00000354361.4",
"strand": false,
"transcript": "ENST00000361070.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4892,
"cdna_start": 308,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370534.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357463.1",
"strand": false,
"transcript": "NM_001370534.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5070,
"cdna_start": 486,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370535.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357464.1",
"strand": false,
"transcript": "NM_001370535.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 479,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000571750.5",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460049.1",
"strand": false,
"transcript": "ENST00000571750.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 569,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938436.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608495.1",
"strand": false,
"transcript": "ENST00000938436.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5029,
"cdna_start": 445,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938438.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608497.1",
"strand": false,
"transcript": "ENST00000938438.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4907,
"cdna_start": 323,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938439.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608498.1",
"strand": false,
"transcript": "ENST00000938439.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5075,
"cdna_start": 486,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938440.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608499.1",
"strand": false,
"transcript": "ENST00000938440.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5170,
"cdna_start": 581,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938441.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608500.1",
"strand": false,
"transcript": "ENST00000938441.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5043,
"cdna_start": 459,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938442.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608501.1",
"strand": false,
"transcript": "ENST00000938442.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4994,
"cdna_start": 410,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938443.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608502.1",
"strand": false,
"transcript": "ENST00000938443.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 715,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4771,
"cdna_start": 364,
"cds_end": null,
"cds_length": 2148,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370536.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357465.1",
"strand": false,
"transcript": "NM_001370536.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 715,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4791,
"cdna_start": 388,
"cds_end": null,
"cds_length": 2148,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888023.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558082.1",
"strand": false,
"transcript": "ENST00000888023.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 715,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4926,
"cdna_start": 513,
"cds_end": null,
"cds_length": 2148,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938437.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608496.1",
"strand": false,
"transcript": "ENST00000938437.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 149,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 599,
"cdna_start": 417,
"cds_end": null,
"cds_length": 452,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572990.5",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459899.1",
"strand": false,
"transcript": "ENST00000572990.5",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 121,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 528,
"cdna_start": 430,
"cds_end": null,
"cds_length": 368,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000576652.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459515.1",
"strand": false,
"transcript": "ENST00000576652.1",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 115,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 706,
"cdna_start": 627,
"cds_end": null,
"cds_length": 349,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000575113.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461285.1",
"strand": false,
"transcript": "ENST00000575113.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7401,
"cdna_start": 2817,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005256022.5",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005256079.1",
"strand": false,
"transcript": "XM_005256022.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4916,
"cdna_start": 332,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011523191.4",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521493.1",
"strand": false,
"transcript": "XM_011523191.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5004,
"cdna_start": 420,
"cds_end": null,
"cds_length": 2325,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017023391.2",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878880.1",
"strand": false,
"transcript": "XM_017023391.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 715,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": 486,
"cds_end": null,
"cds_length": 2148,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006721228.4",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721291.1",
"strand": false,
"transcript": "XM_006721228.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 715,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4827,
"cdna_start": 420,
"cds_end": null,
"cds_length": 2148,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434323.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.268_270delACTinsTCG",
"hgvs_p": "p.Thr90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290279.1",
"strand": false,
"transcript": "XM_047434323.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 496,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": null,
"cds_end": null,
"cds_length": 1491,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001370537.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.-741_-739delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357466.1",
"strand": false,
"transcript": "NM_001370537.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 496,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4745,
"cdna_start": null,
"cds_end": null,
"cds_length": 1491,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001370539.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.-364_-362delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357468.1",
"strand": false,
"transcript": "NM_001370539.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 496,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5121,
"cdna_start": null,
"cds_end": null,
"cds_length": 1491,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370542.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.-618_-616delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357471.1",
"strand": false,
"transcript": "NM_001370542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 496,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4999,
"cdna_start": null,
"cds_end": null,
"cds_length": 1491,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370543.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.-496_-494delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357472.1",
"strand": false,
"transcript": "NM_001370543.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 496,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4582,
"cdna_start": null,
"cds_end": null,
"cds_length": 1491,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047434324.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.-293_-291delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290280.1",
"strand": false,
"transcript": "XM_047434324.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 496,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": null,
"cds_end": null,
"cds_length": 1491,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370540.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.-317+3442_-317+3444delACTinsTCG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357469.1",
"strand": false,
"transcript": "NM_001370540.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 23,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 586,
"cdna_start": null,
"cds_end": null,
"cds_length": 74,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572337.5",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "c.-317+3442_-317+3444delACTinsTCG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459465.1",
"strand": false,
"transcript": "ENST00000572337.5",
"transcript_support_level": 4
},
{
"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": 936,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000571776.1",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "n.354_356delACTinsTCG",
"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": "ENST00000571776.1",
"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": 841,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000575397.5",
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"hgvs_c": "n.439_441delACTinsTCG",
"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": "ENST00000575397.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25539,
"gene_symbol": "RFWD3",
"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": 0.572,
"pos": 74661180,
"ref": "AGT",
"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_018124.4"
}
]
}