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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: 20-33396962-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33396962&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33396962,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000346416.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "NM_016408.4",
"protein_id": "NP_057492.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 587,
"cds_start": 103,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": "ENST00000346416.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "ENST00000346416.7",
"protein_id": "ENSP00000217372.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 587,
"cds_start": 103,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": "NM_016408.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "ENST00000339269.5",
"protein_id": "ENSP00000341840.5",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 510,
"cds_start": 103,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "NM_001365728.1",
"protein_id": "NP_001352657.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 601,
"cds_start": 103,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "ENST00000357886.8",
"protein_id": "ENSP00000350558.4",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 601,
"cds_start": 103,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "NM_001278167.2",
"protein_id": "NP_001265096.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 586,
"cds_start": 103,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "NM_001278168.2",
"protein_id": "NP_001265097.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 510,
"cds_start": 103,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "XM_047440195.1",
"protein_id": "XP_047296151.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 415,
"cds_start": 103,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly",
"transcript": "XM_047440197.1",
"protein_id": "XP_047296153.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 1134,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.132-26A>G",
"hgvs_p": null,
"transcript": "NM_016082.4",
"protein_id": "NP_057166.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": -4,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1982,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.132-110A>G",
"hgvs_p": null,
"transcript": "NM_001278169.1",
"protein_id": "NP_001265098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": -4,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1898,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.-142-26A>G",
"hgvs_p": null,
"transcript": "ENST00000473997.5",
"protein_id": "ENSP00000476857.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
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"cds_length": 1494,
"cdna_start": null,
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"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.81+4466A>G",
"hgvs_p": null,
"transcript": "ENST00000460043.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.60-2896A>G",
"hgvs_p": null,
"transcript": "ENST00000461356.5",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.25+4466A>G",
"hgvs_p": null,
"transcript": "ENST00000471264.5",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.79-1846A>G",
"hgvs_p": null,
"transcript": "ENST00000477105.5",
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},
{
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "CDK5RAP1",
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"hgvs_c": "n.53-2896A>G",
"hgvs_p": null,
"transcript": "ENST00000481964.5",
"protein_id": null,
"transcript_support_level": 5,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.77+4466A>G",
"hgvs_p": null,
"transcript": "ENST00000482967.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.96+4466A>G",
"hgvs_p": null,
"transcript": "ENST00000488723.1",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CDK5RAP1",
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"hgvs_c": "n.51+4466A>G",
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"transcript": "ENST00000496381.5",
"protein_id": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.131+4466A>G",
"hgvs_p": null,
"transcript": "XM_011528856.4",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.-26-1846A>G",
"hgvs_p": null,
"transcript": "XM_011528857.3",
"protein_id": "XP_011527159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
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"cds_length": 1434,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.-65-110A>G",
"hgvs_p": null,
"transcript": "XM_011528859.3",
"protein_id": "XP_011527161.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 460,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1794,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.-141-2896A>G",
"hgvs_p": null,
"transcript": "XM_024451893.2",
"protein_id": "XP_024307661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": -4,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.-175A>G",
"hgvs_p": null,
"transcript": "XM_047440194.1",
"protein_id": "XP_047296150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"dbsnp": "rs751026780",
"frequency_reference_population": 0.000014869446,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000102611,
"gnomad_genomes_af": 0.0000591265,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03407511115074158,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.0558,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.53,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000346416.7",
"gene_symbol": "CDK5RAP1",
"hgnc_id": 15880,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ser35Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}