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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: 19-51885293-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51885293&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51885293,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000638348.2",
"consequences": [
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_001370449.1",
"protein_id": "NP_001357378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8291,
"mane_select": "ENST00000638348.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "ENST00000638348.2",
"protein_id": "ENSP00000491936.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8291,
"mane_select": "NM_001370449.1",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "ENST00000301399.12",
"protein_id": "ENSP00000301399.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7308,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_001370447.1",
"protein_id": "NP_001357376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7360,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_001370448.1",
"protein_id": "NP_001357377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7372,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_032679.3",
"protein_id": "NP_116068.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7308,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_001135590.2",
"protein_id": "NP_001129062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7195,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_001370450.1",
"protein_id": "NP_001357379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8114,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "ENST00000451628.9",
"protein_id": "ENSP00000389652.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7180,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "ENST00000639636.2",
"protein_id": "ENSP00000491349.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8099,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_001370452.1",
"protein_id": "NP_001357381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2774,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_001370455.1",
"protein_id": "NP_001357384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
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"cdna_length": 3693,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_001370456.1",
"protein_id": "NP_001357385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
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"cds_length": 327,
"cdna_start": null,
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"cdna_length": 3618,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "NM_001370457.1",
"protein_id": "NP_001357386.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-218-4416T>C",
"hgvs_p": null,
"transcript": "ENST00000638325.1",
"protein_id": "ENSP00000492661.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+2603T>C",
"hgvs_p": null,
"transcript": "ENST00000638814.1",
"protein_id": "ENSP00000492882.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"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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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+823T>C",
"hgvs_p": null,
"transcript": "ENST00000638538.1",
"protein_id": "ENSP00000492518.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 57,
"cds_start": -4,
"cds_end": null,
"cds_length": 175,
"cdna_start": null,
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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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-207+1528T>C",
"hgvs_p": null,
"transcript": "ENST00000638423.1",
"protein_id": "ENSP00000491339.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": -4,
"cds_end": null,
"cds_length": 133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 512,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "c.-219+1528T>C",
"hgvs_p": null,
"transcript": "ENST00000640429.1",
"protein_id": "ENSP00000491381.1",
"transcript_support_level": 3,
"aa_start": null,
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"cdna_start": null,
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"biotype": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "n.274+1528T>C",
"hgvs_p": null,
"transcript": "ENST00000638684.1",
"protein_id": null,
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"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "n.396+1528T>C",
"hgvs_p": null,
"transcript": "ENST00000638721.1",
"protein_id": null,
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"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "n.-219+2603T>C",
"hgvs_p": null,
"transcript": "ENST00000638827.1",
"protein_id": "ENSP00000492704.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF577",
"gene_hgnc_id": 28673,
"hgvs_c": "n.350+823T>C",
"hgvs_p": null,
"transcript": "ENST00000639183.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
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{
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{
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],
"gene_symbol": "ZNF577",
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"hom_count_reference_population": 4250,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.215401,
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"gnomad_genomes_ac": 32762,
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"gnomad_genomes_homalt": 4250,
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"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.924,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000638348.2",
"gene_symbol": "ZNF577",
"hgnc_id": 28673,
"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
}