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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: 14-89989085-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89989085&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 89989085,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000335725.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "NM_018319.4",
"protein_id": "NP_060789.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "ENST00000335725.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000335725.9",
"protein_id": "ENSP00000337353.4",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "NM_018319.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000393454.6",
"protein_id": "ENSP00000377099.2",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000393452.7",
"protein_id": "ENSP00000377098.3",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 589,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.232T>A",
"hgvs_p": "p.Tyr78Asn",
"transcript": "ENST00000556063.1",
"protein_id": "ENSP00000450795.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 280,
"cds_start": 232,
"cds_end": null,
"cds_length": 843,
"cdna_start": 233,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.*635T>A",
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.*635T>A",
"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": "Y",
"aa_alt": "N",
"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.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "NM_001008744.2",
"protein_id": "NP_001008744.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "NM_001330205.2",
"protein_id": "NP_001317134.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 578,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000555880.5",
"protein_id": "ENSP00000450628.1",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 578,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_005267848.4",
"protein_id": "XP_005267905.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_006720197.5",
"protein_id": "XP_006720260.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_011536942.4",
"protein_id": "XP_011535244.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_047431568.1",
"protein_id": "XP_047287524.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_047431569.1",
"protein_id": "XP_047287525.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_047431570.1",
"protein_id": "XP_047287526.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
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"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_047431572.1",
"protein_id": "XP_047287528.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_047431573.1",
"protein_id": "XP_047287529.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_047431574.1",
"protein_id": "XP_047287530.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
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"cdna_start": 2944,
"cdna_end": null,
"cdna_length": 5080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_047431575.1",
"protein_id": "XP_047287531.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_017021440.3",
"protein_id": "XP_016876929.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 578,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_047431576.1",
"protein_id": "XP_047287532.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 578,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "XM_047431577.1",
"protein_id": "XP_047287533.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 578,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1894,
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"cdna_length": 3921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "TDP1",
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"hgvs_c": "c.595T>A",
"hgvs_p": "p.Tyr199Asn",
"transcript": "XM_047431578.1",
"protein_id": "XP_047287534.1",
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"aa_start": 199,
"aa_end": null,
"aa_length": 369,
"cds_start": 595,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 762,
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"cdna_length": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "TDP1",
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"hgvs_c": "c.517T>A",
"hgvs_p": "p.Tyr173Asn",
"transcript": "XM_047431579.1",
"protein_id": "XP_047287535.1",
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"aa_start": 173,
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"aa_length": 343,
"cds_start": 517,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 797,
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"cdna_length": 2933,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
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"hgvs_c": "n.*871T>A",
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"transcript": "ENST00000554976.5",
"protein_id": "ENSP00000452042.1",
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"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": 3040,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 15,
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"gene_symbol": "TDP1",
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"hgvs_c": "n.*497T>A",
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"transcript": "ENST00000555178.5",
"protein_id": "ENSP00000452363.1",
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"cdna_end": null,
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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": 12,
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"exon_count": 18,
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"gene_symbol": "TDP1",
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"hgvs_c": "n.*871T>A",
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"transcript": "ENST00000554976.5",
"protein_id": "ENSP00000452042.1",
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"aa_end": null,
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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": 9,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
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"hgvs_c": "n.*497T>A",
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"transcript": "ENST00000555178.5",
"protein_id": "ENSP00000452363.1",
"transcript_support_level": 5,
"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": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"dbsnp": "rs182086916",
"frequency_reference_population": 0.000016111062,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000102636,
"gnomad_genomes_af": 0.0000722154,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10659164190292358,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.1118,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.103,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000335725.9",
"gene_symbol": "TDP1",
"hgnc_id": 18884,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}