← 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: 1-212797114-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=212797114&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "TATDN3",
"hgnc_id": 27010,
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001146171.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4539,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9007371664047241,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 274,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 204,
"cds_end": null,
"cds_length": 825,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001042552.3",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366974.9",
"protein_coding": true,
"protein_id": "NP_001036017.1",
"strand": true,
"transcript": "NM_001042552.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 274,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 204,
"cds_end": null,
"cds_length": 825,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366974.9",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042552.3",
"protein_coding": true,
"protein_id": "ENSP00000355941.4",
"strand": true,
"transcript": "ENST00000366974.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 273,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 214,
"cds_end": null,
"cds_length": 822,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366973.8",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355940.4",
"strand": true,
"transcript": "ENST00000366973.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 240,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 214,
"cds_end": null,
"cds_length": 723,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000531963.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433755.1",
"strand": true,
"transcript": "ENST00000531963.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 287,
"aa_ref": "Y",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 205,
"cds_end": null,
"cds_length": 864,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933547.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.194A>C",
"hgvs_p": "p.Tyr65Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603606.1",
"strand": true,
"transcript": "ENST00000933547.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 292,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 217,
"cds_end": null,
"cds_length": 879,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950486.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620545.1",
"strand": true,
"transcript": "ENST00000950486.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 281,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 204,
"cds_end": null,
"cds_length": 846,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001146171.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139643.1",
"strand": true,
"transcript": "NM_001146171.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 281,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 270,
"cds_end": null,
"cds_length": 846,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532324.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431376.1",
"strand": true,
"transcript": "ENST00000532324.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 273,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 204,
"cds_end": null,
"cds_length": 822,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001042553.3",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036018.1",
"strand": true,
"transcript": "NM_001042553.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 272,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": 223,
"cds_end": null,
"cds_length": 819,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000883558.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553617.1",
"strand": true,
"transcript": "ENST00000883558.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 262,
"aa_ref": "Y",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 144,
"cds_end": null,
"cds_length": 789,
"cds_start": 143,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933544.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.143A>C",
"hgvs_p": "p.Tyr48Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603603.1",
"strand": true,
"transcript": "ENST00000933544.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 260,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 228,
"cds_end": null,
"cds_length": 783,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950484.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620543.1",
"strand": true,
"transcript": "ENST00000950484.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 255,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 194,
"cds_end": null,
"cds_length": 768,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933546.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603605.1",
"strand": true,
"transcript": "ENST00000933546.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 253,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 204,
"cds_end": null,
"cds_length": 762,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001146170.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139642.1",
"strand": true,
"transcript": "NM_001146170.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 253,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1073,
"cdna_start": 228,
"cds_end": null,
"cds_length": 762,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526641.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434801.1",
"strand": true,
"transcript": "ENST00000526641.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 252,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 204,
"cds_end": null,
"cds_length": 759,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000883560.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553619.1",
"strand": true,
"transcript": "ENST00000883560.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 247,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 217,
"cds_end": null,
"cds_length": 744,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000883559.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553618.1",
"strand": true,
"transcript": "ENST00000883559.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 240,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 204,
"cds_end": null,
"cds_length": 723,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001146169.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139641.1",
"strand": true,
"transcript": "NM_001146169.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 192,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 204,
"cds_end": null,
"cds_length": 579,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001363589.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350518.1",
"strand": true,
"transcript": "NM_001363589.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 191,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 204,
"cds_end": null,
"cds_length": 576,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001363590.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350519.1",
"strand": true,
"transcript": "NM_001363590.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 191,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 794,
"cdna_start": 192,
"cds_end": null,
"cds_length": 576,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526997.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436364.1",
"strand": true,
"transcript": "ENST00000526997.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 181,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 199,
"cds_end": null,
"cds_length": 546,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933545.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603604.1",
"strand": true,
"transcript": "ENST00000933545.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 180,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 718,
"cdna_start": 184,
"cds_end": null,
"cds_length": 543,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933548.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603607.1",
"strand": true,
"transcript": "ENST00000933548.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 160,
"aa_ref": "Y",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 547,
"cdna_start": 236,
"cds_end": null,
"cds_length": 484,
"cds_start": 173,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000530399.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.173A>C",
"hgvs_p": "p.Tyr58Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434276.2",
"strand": true,
"transcript": "ENST00000530399.2",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 160,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 204,
"cds_end": null,
"cds_length": 483,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000883561.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553620.1",
"strand": true,
"transcript": "ENST00000883561.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 159,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 204,
"cds_end": null,
"cds_length": 480,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950485.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620544.1",
"strand": true,
"transcript": "ENST00000950485.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 143,
"aa_ref": "Y",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 498,
"cdna_start": 174,
"cds_end": null,
"cds_length": 432,
"cds_start": 173,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000488246.6",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.173A>C",
"hgvs_p": "p.Tyr58Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431379.1",
"strand": true,
"transcript": "ENST00000488246.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 133,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 587,
"cdna_start": 194,
"cds_end": null,
"cds_length": 402,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000883562.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553621.1",
"strand": true,
"transcript": "ENST00000883562.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 260,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 204,
"cds_end": null,
"cds_length": 783,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017000328.3",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855817.1",
"strand": true,
"transcript": "XM_017000328.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 252,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 204,
"cds_end": null,
"cds_length": 759,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017000329.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855818.1",
"strand": true,
"transcript": "XM_017000329.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 247,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 204,
"cds_end": null,
"cds_length": 744,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017000330.3",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855819.1",
"strand": true,
"transcript": "XM_017000330.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 221,
"aa_ref": "Y",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 169,
"cds_end": null,
"cds_length": 666,
"cds_start": 20,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024453283.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Tyr7Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309051.1",
"strand": true,
"transcript": "XM_024453283.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 204,
"cds_end": null,
"cds_length": 516,
"cds_start": 176,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047446340.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Tyr59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047302296.1",
"strand": true,
"transcript": "XM_047446340.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 61,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 492,
"cdna_start": null,
"cds_end": null,
"cds_length": 186,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530441.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.173+524A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432730.1",
"strand": true,
"transcript": "ENST00000530441.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 302,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000497768.7",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "n.169A>C",
"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": "ENST00000497768.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000525569.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "n.335A>C",
"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": "ENST00000525569.5",
"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": 570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000530392.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "n.220A>C",
"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": "ENST00000530392.1",
"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": 417,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533650.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "n.176A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434428.1",
"strand": true,
"transcript": "ENST00000533650.5",
"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": 2206,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525574.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "n.167+524A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433143.1",
"strand": true,
"transcript": "ENST00000525574.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 30,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": 93,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000606486.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.-20A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475492.1",
"strand": true,
"transcript": "ENST00000606486.1",
"transcript_support_level": 6
},
{
"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": 561,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000532433.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "n.*137A>C",
"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": "ENST00000532433.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs774499440",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 6.8421076e-7,
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84211e-7,
"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": 3.091,
"pos": 212797114,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.773,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_001146171.2"
}
]
}