← 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: 14-90019317-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=90019317&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "TDP1",
"hgnc_id": 18884,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_018319.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 293,
"alphamissense_prediction": null,
"alphamissense_score": 0.9265,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8627917766571045,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_018319.4",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335725.9",
"protein_coding": true,
"protein_id": "NP_060789.2",
"strand": true,
"transcript": "NM_018319.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000335725.9",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018319.4",
"protein_coding": true,
"protein_id": "ENSP00000337353.4",
"strand": true,
"transcript": "ENST00000335725.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000393454.6",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377099.2",
"strand": true,
"transcript": "ENST00000393454.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 589,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000393452.7",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377098.3",
"strand": true,
"transcript": "ENST00000393452.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 280,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1076,
"cdna_start": 464,
"cds_end": null,
"cds_length": 843,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000556063.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450795.1",
"strand": true,
"transcript": "ENST00000556063.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000545686.6",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "n.*866G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444587.2",
"strand": true,
"transcript": "ENST00000545686.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000545686.6",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "n.*866G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444587.2",
"strand": true,
"transcript": "ENST00000545686.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 675,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1744,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000935815.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605874.1",
"strand": true,
"transcript": "ENST00000935815.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 650,
"aa_ref": "A",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1669,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000894818.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1669G>A",
"hgvs_p": "p.Ala557Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564877.1",
"strand": true,
"transcript": "ENST00000894818.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 633,
"aa_ref": "A",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1618,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000935816.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Ala540Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605875.1",
"strand": true,
"transcript": "ENST00000935816.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 615,
"aa_ref": "A",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1564,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000935818.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Ala522Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605877.1",
"strand": true,
"transcript": "ENST00000935818.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001008744.2",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008744.1",
"strand": true,
"transcript": "NM_001008744.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000894814.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564873.1",
"strand": true,
"transcript": "ENST00000894814.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894815.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564874.1",
"strand": true,
"transcript": "ENST00000894815.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894816.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564875.1",
"strand": true,
"transcript": "ENST00000894816.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000894817.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564876.1",
"strand": true,
"transcript": "ENST00000894817.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1869,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894819.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564878.1",
"strand": true,
"transcript": "ENST00000894819.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894820.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564879.1",
"strand": true,
"transcript": "ENST00000894820.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3615,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000935812.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605871.1",
"strand": true,
"transcript": "ENST00000935812.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000935813.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605872.1",
"strand": true,
"transcript": "ENST00000935813.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935814.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605873.1",
"strand": true,
"transcript": "ENST00000935814.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 2204,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000935817.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605876.1",
"strand": true,
"transcript": "ENST00000935817.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 578,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3698,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001330205.2",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317134.1",
"strand": true,
"transcript": "NM_001330205.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 578,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000555880.5",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450628.1",
"strand": true,
"transcript": "ENST00000555880.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 552,
"aa_ref": "A",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1375,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000953174.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Ala459Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623233.1",
"strand": true,
"transcript": "ENST00000953174.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005267848.4",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267905.1",
"strand": true,
"transcript": "XM_005267848.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006720197.5",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720260.1",
"strand": true,
"transcript": "XM_006720197.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011536942.4",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535244.1",
"strand": true,
"transcript": "XM_011536942.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4329,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431568.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287524.1",
"strand": true,
"transcript": "XM_047431568.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4213,
"cdna_start": 2308,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431569.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287525.1",
"strand": true,
"transcript": "XM_047431569.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4388,
"cdna_start": 2483,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431570.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287526.1",
"strand": true,
"transcript": "XM_047431570.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431572.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287528.1",
"strand": true,
"transcript": "XM_047431572.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3914,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431573.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287529.1",
"strand": true,
"transcript": "XM_047431573.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5080,
"cdna_start": 3175,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431574.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287530.1",
"strand": true,
"transcript": "XM_047431574.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3683,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431575.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287531.1",
"strand": true,
"transcript": "XM_047431575.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 578,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3390,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017021440.3",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876929.1",
"strand": true,
"transcript": "XM_017021440.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 578,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4220,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431576.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287532.1",
"strand": true,
"transcript": "XM_047431576.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 578,
"aa_ref": "A",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1543,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431577.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287533.1",
"strand": true,
"transcript": "XM_047431577.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 369,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2898,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1110,
"cds_start": 826,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047431578.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287534.1",
"strand": true,
"transcript": "XM_047431578.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 343,
"aa_ref": "A",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1032,
"cds_start": 748,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047431579.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Ala250Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287535.1",
"strand": true,
"transcript": "XM_047431579.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000554976.5",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "n.*1102G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452042.1",
"strand": true,
"transcript": "ENST00000554976.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000555178.5",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "n.*728G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452363.1",
"strand": true,
"transcript": "ENST00000555178.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000554976.5",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "n.*1102G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452042.1",
"strand": true,
"transcript": "ENST00000554976.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000555178.5",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "n.*728G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452363.1",
"strand": true,
"transcript": "ENST00000555178.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.947096657165374,
"dbsnp": "rs200769126",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.0001831044,
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"gnomad_exomes_ac": 278,
"gnomad_exomes_af": 0.000192003,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 15,
"gnomad_genomes_af": 0.0000984976,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.159,
"pos": 90019317,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.521,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.8799999952316284,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018319.4"
}
]
}