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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: 14-89985160-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89985160&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 89985160,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000335725.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "NM_018319.4",
"protein_id": "NP_060789.2",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "ENST00000335725.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000335725.9",
"protein_id": "ENSP00000337353.4",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "NM_018319.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000393454.6",
"protein_id": "ENSP00000377099.2",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000393452.7",
"protein_id": "ENSP00000377098.3",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 589,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1C>T",
"hgvs_p": "p.Arg1Cys",
"transcript": "ENST00000556063.1",
"protein_id": "ENSP00000450795.1",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 1,
"cds_end": null,
"cds_length": 843,
"cdna_start": 2,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.*347C>T",
"hgvs_p": null,
"transcript": "ENST00000545686.6",
"protein_id": "ENSP00000444587.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.*347C>T",
"hgvs_p": null,
"transcript": "ENST00000545686.6",
"protein_id": "ENSP00000444587.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "NM_001008744.2",
"protein_id": "NP_001008744.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "NM_001330205.2",
"protein_id": "NP_001317134.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 578,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000555880.5",
"protein_id": "ENSP00000450628.1",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 578,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_005267848.4",
"protein_id": "XP_005267905.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_006720197.5",
"protein_id": "XP_006720260.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_011536942.4",
"protein_id": "XP_011535244.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_047431568.1",
"protein_id": "XP_047287524.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
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"cdna_start": 1962,
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"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_047431569.1",
"protein_id": "XP_047287525.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_047431570.1",
"protein_id": "XP_047287526.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
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"cdna_start": 2021,
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"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_047431572.1",
"protein_id": "XP_047287528.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_047431573.1",
"protein_id": "XP_047287529.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_047431574.1",
"protein_id": "XP_047287530.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
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"cdna_start": 2713,
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"cdna_length": 5080,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_047431575.1",
"protein_id": "XP_047287531.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 608,
"cds_start": 1081,
"cds_end": null,
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"cdna_start": 1316,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_017021440.3",
"protein_id": "XP_016876929.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 578,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "XM_047431576.1",
"protein_id": "XP_047287532.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 578,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
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"exon_count": 14,
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"hgvs_p": "p.Arg122Cys",
"transcript": "XM_047431578.1",
"protein_id": "XP_047287534.1",
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"feature": null
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "TDP1",
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"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047431579.1",
"protein_id": "XP_047287535.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 18,
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"gene_symbol": "TDP1",
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"hgvs_c": "n.*640C>T",
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"transcript": "ENST00000554976.5",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 15,
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"gene_symbol": "TDP1",
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"hgvs_c": "n.*266C>T",
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"transcript": "ENST00000555178.5",
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"cdna_length": 2200,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 18,
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"gene_symbol": "TDP1",
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"transcript": "ENST00000554976.5",
"protein_id": "ENSP00000452042.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
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"hgvs_c": "n.*266C>T",
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"transcript": "ENST00000555178.5",
"protein_id": "ENSP00000452363.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"dbsnp": "rs368969696",
"frequency_reference_population": 0.000029788427,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000301536,
"gnomad_genomes_af": 0.0000262871,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7695130109786987,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.386,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.693,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000335725.9",
"gene_symbol": "TDP1",
"hgnc_id": 18884,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}