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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: 3-25598360-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=25598360&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 25598360,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001330700.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4828T>C",
"hgvs_p": "p.Phe1610Leu",
"transcript": "NM_001330700.2",
"protein_id": "NP_001317629.1",
"transcript_support_level": null,
"aa_start": 1610,
"aa_end": null,
"aa_length": 1626,
"cds_start": 4828,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264331.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330700.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4828T>C",
"hgvs_p": "p.Phe1610Leu",
"transcript": "ENST00000264331.9",
"protein_id": "ENSP00000264331.4",
"transcript_support_level": 5,
"aa_start": 1610,
"aa_end": null,
"aa_length": 1626,
"cds_start": 4828,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330700.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264331.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4813T>C",
"hgvs_p": "p.Phe1605Leu",
"transcript": "ENST00000435706.7",
"protein_id": "ENSP00000396704.2",
"transcript_support_level": 1,
"aa_start": 1605,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4813,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435706.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4729T>C",
"hgvs_p": "p.Phe1577Leu",
"transcript": "ENST00000424225.2",
"protein_id": "ENSP00000391112.2",
"transcript_support_level": 1,
"aa_start": 1577,
"aa_end": null,
"aa_length": 1593,
"cds_start": 4729,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424225.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4813T>C",
"hgvs_p": "p.Phe1605Leu",
"transcript": "NM_001068.3",
"protein_id": "NP_001059.2",
"transcript_support_level": null,
"aa_start": 1605,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4813,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001068.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4753T>C",
"hgvs_p": "p.Phe1585Leu",
"transcript": "ENST00000854208.1",
"protein_id": "ENSP00000524267.1",
"transcript_support_level": null,
"aa_start": 1585,
"aa_end": null,
"aa_length": 1601,
"cds_start": 4753,
"cds_end": null,
"cds_length": 4806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854208.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4702T>C",
"hgvs_p": "p.Phe1568Leu",
"transcript": "ENST00000957358.1",
"protein_id": "ENSP00000627417.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4702,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957358.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4690T>C",
"hgvs_p": "p.Phe1564Leu",
"transcript": "ENST00000957360.1",
"protein_id": "ENSP00000627419.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1580,
"cds_start": 4690,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957360.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4618T>C",
"hgvs_p": "p.Phe1540Leu",
"transcript": "ENST00000957359.1",
"protein_id": "ENSP00000627418.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1556,
"cds_start": 4618,
"cds_end": null,
"cds_length": 4671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957359.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4612T>C",
"hgvs_p": "p.Phe1538Leu",
"transcript": "ENST00000854207.1",
"protein_id": "ENSP00000524266.1",
"transcript_support_level": null,
"aa_start": 1538,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4612,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854207.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4717T>C",
"hgvs_p": "p.Phe1573Leu",
"transcript": "XM_011534057.4",
"protein_id": "XP_011532359.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4717,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534057.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "c.4702T>C",
"hgvs_p": "p.Phe1568Leu",
"transcript": "XM_047448821.1",
"protein_id": "XP_047304777.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4702,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448821.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.*1460T>C",
"hgvs_p": null,
"transcript": "ENST00000413971.5",
"protein_id": "ENSP00000388216.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413971.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.3727T>C",
"hgvs_p": null,
"transcript": "ENST00000470132.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470132.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.1691T>C",
"hgvs_p": null,
"transcript": "ENST00000699028.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699028.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.3758T>C",
"hgvs_p": null,
"transcript": "ENST00000699029.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699029.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.2934T>C",
"hgvs_p": null,
"transcript": "ENST00000699030.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.5091T>C",
"hgvs_p": null,
"transcript": "ENST00000699031.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699031.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.7466T>C",
"hgvs_p": null,
"transcript": "ENST00000699032.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.5199T>C",
"hgvs_p": null,
"transcript": "ENST00000699033.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699033.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.1585T>C",
"hgvs_p": null,
"transcript": "ENST00000699034.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.1304T>C",
"hgvs_p": null,
"transcript": "ENST00000699035.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699035.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"consequences": [
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"biotype": "retained_intron",
"feature": "ENST00000699036.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699038.2"
},
{
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"protein_coding": false,
"strand": false,
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"exon_count": 3,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000699039.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "TOP2B",
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"hgvs_c": "n.2298T>C",
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"feature": "ENST00000699040.1"
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{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"feature": "ENST00000699041.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"gene_symbol": "TOP2B",
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"transcript": "ENST00000699042.1",
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"feature": "ENST00000699042.1"
},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
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"exon_count": 12,
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"gene_symbol": "TOP2B",
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"hgvs_c": "n.*1460T>C",
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"transcript": "ENST00000413971.5",
"protein_id": "ENSP00000388216.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413971.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"hgvs_c": "n.*2417T>C",
"hgvs_p": null,
"transcript": "ENST00000699038.2",
"protein_id": "ENSP00000514097.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699038.2"
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],
"gene_symbol": "TOP2B",
"gene_hgnc_id": 11990,
"dbsnp": "rs2125336851",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3247569799423218,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.8894,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.508,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330700.2",
"gene_symbol": "TOP2B",
"hgnc_id": 11990,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4828T>C",
"hgvs_p": "p.Phe1610Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}