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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: 18-74508848-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=74508848&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 74508848,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000324262.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "NM_018235.3",
"protein_id": "NP_060705.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 4975,
"mane_select": "ENST00000324262.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000324262.9",
"protein_id": "ENSP00000325548.4",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 4975,
"mane_select": "NM_018235.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000584768.5",
"protein_id": "ENSP00000482227.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 157,
"cds_start": 376,
"cds_end": null,
"cds_length": 474,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "ENST00000324301.12",
"protein_id": "ENSP00000325756.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "NM_001370248.1",
"protein_id": "NP_001357177.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "NM_001370249.1",
"protein_id": "NP_001357178.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "NM_001370250.1",
"protein_id": "NP_001357179.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000579847.5",
"protein_id": "ENSP00000462311.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000583785.5",
"protein_id": "ENSP00000463222.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 248,
"cds_start": 376,
"cds_end": null,
"cds_length": 749,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.322T>C",
"hgvs_p": "p.Tyr108His",
"transcript": "ENST00000580672.5",
"protein_id": "ENSP00000464214.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 203,
"cds_start": 322,
"cds_end": null,
"cds_length": 613,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000583216.5",
"protein_id": "ENSP00000462673.1",
"transcript_support_level": 4,
"aa_start": 126,
"aa_end": null,
"aa_length": 148,
"cds_start": 376,
"cds_end": null,
"cds_length": 448,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000581272.5",
"protein_id": "ENSP00000464151.1",
"transcript_support_level": 4,
"aa_start": 126,
"aa_end": null,
"aa_length": 133,
"cds_start": 376,
"cds_end": null,
"cds_length": 402,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000582589.5",
"protein_id": "ENSP00000463182.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 127,
"cds_start": 376,
"cds_end": null,
"cds_length": 385,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Tyr87His",
"transcript": "ENST00000577355.2",
"protein_id": "ENSP00000479635.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 124,
"cds_start": 259,
"cds_end": null,
"cds_length": 375,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Tyr83His",
"transcript": "ENST00000582666.5",
"protein_id": "ENSP00000461941.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 87,
"cds_start": 247,
"cds_end": null,
"cds_length": 264,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "XM_047437623.1",
"protein_id": "XP_047293579.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "XM_047437624.1",
"protein_id": "XP_047293580.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 475,
"cds_start": 376,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 6839,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "n.*243T>C",
"hgvs_p": null,
"transcript": "ENST00000582260.5",
"protein_id": "ENSP00000464319.1",
"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": 743,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "n.4T>C",
"hgvs_p": null,
"transcript": "ENST00000584581.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4523,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "n.1782T>C",
"hgvs_p": null,
"transcript": "ENST00000585263.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.-562T>C",
"hgvs_p": null,
"transcript": "NM_001370254.1",
"protein_id": "NP_001357183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5195,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "n.*243T>C",
"hgvs_p": null,
"transcript": "ENST00000582260.5",
"protein_id": "ENSP00000464319.1",
"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNDP2",
"gene_hgnc_id": 24437,
"hgvs_c": "c.205-1965T>C",
"hgvs_p": null,
"transcript": "NM_001168499.2",
"protein_id": "NP_001161971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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{
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"criteria": [
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}