← 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: 22-37066886-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37066886&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TMPRSS6",
"hgnc_id": 16517,
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Tyr752Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -18,
"transcript": "NM_001289000.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BA1",
"acmg_score": -18,
"allele_count_reference_population": 609660,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "22",
"clinvar_classification": "Benign",
"clinvar_disease": "Iron-refractory iron deficiency anemia,Microcytic anemia,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.44999998807907104,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 2402,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001374504.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000676104.1",
"protein_coding": true,
"protein_id": "NP_001361433.1",
"strand": false,
"transcript": "NM_001374504.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 2402,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676104.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001374504.1",
"protein_coding": true,
"protein_id": "ENSP00000501573.1",
"strand": false,
"transcript": "ENST00000676104.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Y",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 2468,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2256,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000406856.7",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Tyr752Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384964.1",
"strand": false,
"transcript": "ENST00000406856.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000346753.9",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334962.6",
"strand": false,
"transcript": "ENST00000346753.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000406725.6",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385453.1",
"strand": false,
"transcript": "ENST00000406725.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 847,
"aa_ref": "Y",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2325,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000862848.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2325C>T",
"hgvs_p": "p.Tyr775Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532907.1",
"strand": false,
"transcript": "ENST00000862848.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Y",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 2511,
"cds_start": 2292,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000862852.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Tyr764Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532911.1",
"strand": false,
"transcript": "ENST00000862852.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 825,
"aa_ref": "Y",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 2468,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2259,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000862846.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2259C>T",
"hgvs_p": "p.Tyr753Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532905.1",
"strand": false,
"transcript": "ENST00000862846.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 825,
"aa_ref": "Y",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 2371,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2259,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000862856.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2259C>T",
"hgvs_p": "p.Tyr753Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532915.1",
"strand": false,
"transcript": "ENST00000862856.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Y",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 2468,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2256,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001289000.2",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Tyr752Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275929.1",
"strand": false,
"transcript": "NM_001289000.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Y",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2256,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000381792.6",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Tyr752Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371211.2",
"strand": false,
"transcript": "ENST00000381792.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Y",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2256,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000862826.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Tyr752Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532884.1",
"strand": false,
"transcript": "ENST00000862826.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Y",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 2430,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2256,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000862853.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Tyr752Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532912.1",
"strand": false,
"transcript": "ENST00000862853.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 813,
"aa_ref": "Y",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 2286,
"cds_end": null,
"cds_length": 2442,
"cds_start": 2223,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862835.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2223C>T",
"hgvs_p": "p.Tyr741Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532894.1",
"strand": false,
"transcript": "ENST00000862835.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 812,
"aa_ref": "Y",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 2439,
"cds_start": 2220,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862850.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2220C>T",
"hgvs_p": "p.Tyr740Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532909.1",
"strand": false,
"transcript": "ENST00000862850.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 810,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862849.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532908.1",
"strand": false,
"transcript": "ENST00000862849.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 2290,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001289001.2",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275930.1",
"strand": false,
"transcript": "NM_001289001.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3197,
"cdna_start": 2334,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_153609.4",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_705837.2",
"strand": false,
"transcript": "NM_153609.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 2627,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862824.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532883.1",
"strand": false,
"transcript": "ENST00000862824.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862837.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532896.1",
"strand": false,
"transcript": "ENST00000862837.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Y",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 2494,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2190,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000862847.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Tyr730Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532906.1",
"strand": false,
"transcript": "ENST00000862847.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 801,
"aa_ref": "Y",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2187,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862827.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Tyr729Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532886.1",
"strand": false,
"transcript": "ENST00000862827.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 801,
"aa_ref": "Y",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2187,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862840.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Tyr729Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532899.1",
"strand": false,
"transcript": "ENST00000862840.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 801,
"aa_ref": "Y",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3101,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2187,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862851.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Tyr729Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532910.1",
"strand": false,
"transcript": "ENST00000862851.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 801,
"aa_ref": "Y",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 2361,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2187,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862854.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Tyr729Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532913.1",
"strand": false,
"transcript": "ENST00000862854.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 788,
"aa_ref": "Y",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3221,
"cdna_start": 2360,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2148,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000862841.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2148C>T",
"hgvs_p": "p.Tyr716Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532900.1",
"strand": false,
"transcript": "ENST00000862841.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 788,
"aa_ref": "Y",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2148,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000956781.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2148C>T",
"hgvs_p": "p.Tyr716Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626840.1",
"strand": false,
"transcript": "ENST00000956781.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 764,
"aa_ref": "Y",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000862832.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Tyr692Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532891.1",
"strand": false,
"transcript": "ENST00000862832.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 764,
"aa_ref": "Y",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000862838.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Tyr692Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532897.1",
"strand": false,
"transcript": "ENST00000862838.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 764,
"aa_ref": "Y",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000862839.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Tyr692Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532898.1",
"strand": false,
"transcript": "ENST00000862839.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 754,
"aa_ref": "Y",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 2255,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2046,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000862845.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2046C>T",
"hgvs_p": "p.Tyr682Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532904.1",
"strand": false,
"transcript": "ENST00000862845.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 736,
"aa_ref": "Y",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 2204,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1992,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000862842.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1992C>T",
"hgvs_p": "p.Tyr664Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532901.1",
"strand": false,
"transcript": "ENST00000862842.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 698,
"aa_ref": "Y",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1878,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000862830.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1878C>T",
"hgvs_p": "p.Tyr626Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532889.1",
"strand": false,
"transcript": "ENST00000862830.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 680,
"aa_ref": "Y",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1824,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000862843.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1824C>T",
"hgvs_p": "p.Tyr608Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532902.1",
"strand": false,
"transcript": "ENST00000862843.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 658,
"aa_ref": "Y",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 1875,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862829.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Tyr586Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532888.1",
"strand": false,
"transcript": "ENST00000862829.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 658,
"aa_ref": "Y",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3305,
"cdna_start": 2011,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862836.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Tyr586Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532895.1",
"strand": false,
"transcript": "ENST00000862836.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 658,
"aa_ref": "Y",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862855.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Tyr586Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532914.1",
"strand": false,
"transcript": "ENST00000862855.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 620,
"aa_ref": "Y",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1644,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862844.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1644C>T",
"hgvs_p": "p.Tyr548Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532903.1",
"strand": false,
"transcript": "ENST00000862844.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Y",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 2339,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2256,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_024452167.2",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Tyr752Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307935.1",
"strand": false,
"transcript": "XM_024452167.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Y",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2256,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_024452168.2",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Tyr752Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307936.1",
"strand": false,
"transcript": "XM_024452168.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 680,
"aa_ref": "Y",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1824,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011529989.3",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1824C>T",
"hgvs_p": "p.Tyr608Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528291.1",
"strand": false,
"transcript": "XM_011529989.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 658,
"aa_ref": "Y",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047441170.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Tyr586Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297126.1",
"strand": false,
"transcript": "XM_047441170.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 658,
"aa_ref": "Y",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047441171.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Tyr586Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297127.1",
"strand": false,
"transcript": "XM_047441171.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2235321",
"effect": "synonymous_variant",
"frequency_reference_population": 0.37782177,
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"gnomad_exomes_ac": 551480,
"gnomad_exomes_af": 0.37731,
"gnomad_exomes_homalt": 106165,
"gnomad_genomes_ac": 58180,
"gnomad_genomes_af": 0.382743,
"gnomad_genomes_homalt": 11343,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 117508,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "Microcytic anemia|not specified|Iron-refractory iron deficiency anemia|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.744,
"pos": 37066886,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"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_001289000.2"
}
]
}