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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: 19-4493993-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4493993&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4493993,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001348169.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "NM_001001520.3",
"protein_id": "NP_001001520.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 671,
"cds_start": 850,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616600.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001520.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "ENST00000616600.5",
"protein_id": "ENSP00000483345.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 671,
"cds_start": 850,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001001520.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616600.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "ENST00000621835.4",
"protein_id": "ENSP00000483702.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 670,
"cds_start": 850,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621835.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "ENST00000901364.1",
"protein_id": "ENSP00000571423.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 704,
"cds_start": 850,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901364.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "ENST00000901363.1",
"protein_id": "ENSP00000571422.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 703,
"cds_start": 850,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901363.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Leu283Phe",
"transcript": "ENST00000940523.1",
"protein_id": "ENSP00000610582.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 703,
"cds_start": 847,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940523.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Leu308Phe",
"transcript": "NM_001348169.2",
"protein_id": "NP_001335098.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 695,
"cds_start": 922,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348169.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "ENST00000940524.1",
"protein_id": "ENSP00000610583.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 688,
"cds_start": 850,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940524.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Leu283Phe",
"transcript": "ENST00000966517.1",
"protein_id": "ENSP00000636576.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 687,
"cds_start": 847,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966517.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "ENST00000940525.1",
"protein_id": "ENSP00000610584.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 678,
"cds_start": 850,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940525.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Leu283Phe",
"transcript": "ENST00000901366.1",
"protein_id": "ENSP00000571425.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 677,
"cds_start": 847,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901366.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "NM_032631.4",
"protein_id": "NP_116020.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 670,
"cds_start": 850,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032631.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Leu283Phe",
"transcript": "ENST00000901361.1",
"protein_id": "ENSP00000571420.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 670,
"cds_start": 847,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901361.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Leu283Phe",
"transcript": "ENST00000901362.1",
"protein_id": "ENSP00000571421.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 669,
"cds_start": 847,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901362.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "ENST00000966518.1",
"protein_id": "ENSP00000636577.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 668,
"cds_start": 850,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966518.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "ENST00000940526.1",
"protein_id": "ENSP00000610585.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 662,
"cds_start": 850,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940526.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Leu284Phe",
"transcript": "ENST00000901367.1",
"protein_id": "ENSP00000571426.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 630,
"cds_start": 850,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901367.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Leu217Phe",
"transcript": "ENST00000940522.1",
"protein_id": "ENSP00000610581.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 604,
"cds_start": 649,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940522.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Leu307Phe",
"transcript": "XM_011528376.4",
"protein_id": "XP_011526678.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 694,
"cds_start": 919,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528376.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Leu308Phe",
"transcript": "XM_011528377.4",
"protein_id": "XP_011526679.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 694,
"cds_start": 922,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528377.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Leu283Phe",
"transcript": "XM_047439547.1",
"protein_id": "XP_047295503.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 670,
"cds_start": 847,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439547.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Leu283Phe",
"transcript": "XM_047439548.1",
"protein_id": "XP_047295504.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 669,
"cds_start": 847,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439548.1"
},
{
"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": 14,
"intron_rank": 6,
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"gene_symbol": "HDGFL2",
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"hgvs_c": "c.679-297C>T",
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"transcript": "ENST00000901365.1",
"protein_id": "ENSP00000571424.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": null,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "n.703C>T",
"hgvs_p": null,
"transcript": "ENST00000615225.1",
"protein_id": "ENSP00000477592.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000615225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"hgvs_c": "c.*231C>T",
"hgvs_p": null,
"transcript": "ENST00000589486.5",
"protein_id": "ENSP00000465267.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589486.5"
}
],
"gene_symbol": "HDGFL2",
"gene_hgnc_id": 14680,
"dbsnp": "rs200731789",
"frequency_reference_population": 0.00033281383,
"hom_count_reference_population": 0,
"allele_count_reference_population": 536,
"gnomad_exomes_af": 0.000353165,
"gnomad_genomes_af": 0.000137915,
"gnomad_exomes_ac": 515,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.036139726638793945,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.165,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.428,
"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": -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": "NM_001348169.2",
"gene_symbol": "HDGFL2",
"hgnc_id": 14680,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Leu308Phe"
}
],
"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
}