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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: 8-61613337-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=61613337&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 61613337,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001413844.1",
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.976+5641G>A",
"hgvs_p": null,
"transcript": "NM_004318.4",
"protein_id": "NP_004309.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379454.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004318.4"
},
{
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.976+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000379454.9",
"protein_id": "ENSP00000368767.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004318.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379454.9"
},
{
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.976+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000950798.1",
"protein_id": "ENSP00000620857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": null,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950798.1"
},
{
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.976+5641G>A",
"hgvs_p": null,
"transcript": "NM_001413844.1",
"protein_id": "NP_001400773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": null,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413844.1"
},
{
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.976+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000887974.1",
"protein_id": "ENSP00000558033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": null,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887974.1"
},
{
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.973+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000887966.1",
"protein_id": "ENSP00000558025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": null,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887966.1"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1021+5641G>A",
"hgvs_p": null,
"transcript": "NM_001413845.1",
"protein_id": "NP_001400774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": null,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413845.1"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1021+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000887927.1",
"protein_id": "ENSP00000557986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": null,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887927.1"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1018+5641G>A",
"hgvs_p": null,
"transcript": "NM_001413846.1",
"protein_id": "NP_001400775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413846.1"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1018+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000887945.1",
"protein_id": "ENSP00000558004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
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"cds_length": 2319,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887945.1"
},
{
"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": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.934+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000887960.1",
"protein_id": "ENSP00000558019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887960.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 15,
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"gene_symbol": "ASPH",
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"hgvs_c": "c.1015+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000950785.1",
"protein_id": "ENSP00000620844.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950785.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.931+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000913382.1",
"protein_id": "ENSP00000583441.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913382.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.919+5641G>A",
"hgvs_p": null,
"transcript": "NM_001413847.1",
"protein_id": "NP_001400776.1",
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"biotype": "protein_coding",
"feature": "NM_001413847.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.919+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000887970.1",
"protein_id": "ENSP00000558029.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000887970.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.916+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000887950.1",
"protein_id": "ENSP00000558009.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000887950.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 14,
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"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.979+5641G>A",
"hgvs_p": null,
"transcript": "NM_001413848.1",
"protein_id": "NP_001400777.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001413848.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.979+20346G>A",
"hgvs_p": null,
"transcript": "ENST00000887973.1",
"protein_id": "ENSP00000558032.1",
"transcript_support_level": null,
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"cds_start": null,
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"feature": "ENST00000887973.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
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"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.979+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000887975.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank_end": null,
"gene_symbol": "ASPH",
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"hgvs_c": "c.976+5641G>A",
"hgvs_p": null,
"transcript": "NM_001413849.1",
"protein_id": "NP_001400778.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "ASPH",
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"hgvs_c": "c.976+5641G>A",
"hgvs_p": null,
"transcript": "ENST00000950787.1",
"protein_id": "ENSP00000620846.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950787.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.973+5641G>A",
"hgvs_p": null,
"transcript": "NM_001413850.1",
"protein_id": "NP_001400779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413850.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"biotype": "retained_intron",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
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"gene_symbol": "ASPH",
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"transcript": "ENST00000523897.5",
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"biotype": "pseudogene",
"feature": "ENST00000523897.5"
}
],
"gene_symbol": "ASPH",
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"dbsnp": "rs2882460",
"frequency_reference_population": 0.00006578947,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000657895,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.042,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001413844.1",
"gene_symbol": "ASPH",
"hgnc_id": 757,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.976+5641G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}