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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: 10-101584832-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101584832&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101584832,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000370162.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "NM_001174084.2",
"protein_id": "NP_001167555.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 575,
"cds_start": 661,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": "ENST00000370162.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "ENST00000370162.8",
"protein_id": "ENSP00000359181.3",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 575,
"cds_start": 661,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": "NM_001174084.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "ENST00000299206.8",
"protein_id": "ENSP00000299206.4",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 575,
"cds_start": 661,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "ENST00000370169.5",
"protein_id": "ENSP00000359188.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 575,
"cds_start": 661,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.61-1151A>C",
"hgvs_p": null,
"transcript": "ENST00000339310.7",
"protein_id": "ENSP00000343102.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "NM_013274.4",
"protein_id": "NP_037406.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 575,
"cds_start": 661,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.397A>C",
"hgvs_p": "p.Thr133Pro",
"transcript": "ENST00000370172.5",
"protein_id": "ENSP00000359191.1",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 487,
"cds_start": 397,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.694A>C",
"hgvs_p": "p.Thr232Pro",
"transcript": "ENST00000426919.5",
"protein_id": "ENSP00000411678.1",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 333,
"cds_start": 694,
"cds_end": null,
"cds_length": 1004,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "ENST00000413344.5",
"protein_id": "ENSP00000400517.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 267,
"cds_start": 661,
"cds_end": null,
"cds_length": 806,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "XM_011539650.2",
"protein_id": "XP_011537952.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 582,
"cds_start": 661,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "XM_011539651.2",
"protein_id": "XP_011537953.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 575,
"cds_start": 661,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.397A>C",
"hgvs_p": "p.Thr133Pro",
"transcript": "XM_011539657.2",
"protein_id": "XP_011537959.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 494,
"cds_start": 397,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 998,
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"cdna_length": 2657,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.397A>C",
"hgvs_p": "p.Thr133Pro",
"transcript": "XM_024447942.2",
"protein_id": "XP_024303710.1",
"transcript_support_level": null,
"aa_start": 133,
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"aa_length": 494,
"cds_start": 397,
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"cdna_start": 1061,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.397A>C",
"hgvs_p": "p.Thr133Pro",
"transcript": "XM_047425087.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.397A>C",
"hgvs_p": "p.Thr133Pro",
"transcript": "XM_024447943.2",
"protein_id": "XP_024303711.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
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"cds_start": 397,
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"cdna_start": 1061,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.397A>C",
"hgvs_p": "p.Thr133Pro",
"transcript": "XM_047425088.1",
"protein_id": "XP_047281044.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "XM_017016084.2",
"protein_id": "XP_016871573.1",
"transcript_support_level": null,
"aa_start": 221,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro",
"transcript": "XM_017016085.2",
"protein_id": "XP_016871574.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 474,
"cds_start": 661,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "POLL",
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"hgvs_c": "c.154A>C",
"hgvs_p": "p.Thr52Pro",
"transcript": "XM_047425089.1",
"protein_id": "XP_047281045.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "POLL",
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"hgvs_p": "p.Thr52Pro",
"transcript": "XM_017016091.3",
"protein_id": "XP_016871580.1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "POLL",
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"hgvs_c": "c.397A>C",
"hgvs_p": "p.Thr133Pro",
"transcript": "XM_047425092.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.397A>C",
"hgvs_p": "p.Thr133Pro",
"transcript": "XM_047425094.1",
"protein_id": "XP_047281050.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 386,
"cds_start": 397,
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"cds_length": 1161,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.154A>C",
"hgvs_p": "p.Thr52Pro",
"transcript": "XM_047425098.1",
"protein_id": "XP_047281054.1",
"transcript_support_level": null,
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},
{
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},
{
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},
{
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"intron_variant"
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},
{
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"intron_variant"
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}
],
"gene_symbol": "POLL",
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"dbsnp": "rs3730463",
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"hom_count_reference_population": 4358,
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"gnomad_exomes_af": 0.0722487,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0016044974327087402,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.0582,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.659,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000370162.8",
"gene_symbol": "POLL",
"hgnc_id": 9184,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Thr221Pro"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000470165.1",
"gene_symbol": "DPCD",
"hgnc_id": 24542,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.440-2444T>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}