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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: 9-101429858-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=101429858&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 101429858,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000035.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "NM_000035.4",
"protein_id": "NP_000026.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647789.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000035.4"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000647789.2",
"protein_id": "ENSP00000497767.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000035.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647789.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000648064.1",
"protein_id": "ENSP00000497990.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648064.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000648758.1",
"protein_id": "ENSP00000497731.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648758.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903775.1",
"protein_id": "ENSP00000573834.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903775.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903776.1",
"protein_id": "ENSP00000573835.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903776.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903777.1",
"protein_id": "ENSP00000573836.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903777.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903778.1",
"protein_id": "ENSP00000573837.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903778.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903779.1",
"protein_id": "ENSP00000573838.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903779.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903780.1",
"protein_id": "ENSP00000573839.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903780.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903782.1",
"protein_id": "ENSP00000573841.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903782.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903785.1",
"protein_id": "ENSP00000573844.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903785.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903787.1",
"protein_id": "ENSP00000573846.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903787.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"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": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903788.1",
"protein_id": "ENSP00000573847.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903788.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903789.1",
"protein_id": "ENSP00000573848.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903789.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903790.1",
"protein_id": "ENSP00000573849.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903790.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903791.1",
"protein_id": "ENSP00000573850.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 364,
"cds_start": 221,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903791.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903783.1",
"protein_id": "ENSP00000573842.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 360,
"cds_start": 221,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903783.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903786.1",
"protein_id": "ENSP00000573845.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 359,
"cds_start": 221,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903786.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903784.1",
"protein_id": "ENSP00000573843.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 358,
"cds_start": 221,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903784.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000649902.1",
"protein_id": "ENSP00000497216.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 342,
"cds_start": 221,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649902.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.221T>G",
"hgvs_p": "p.Ile74Ser",
"transcript": "ENST00000903781.1",
"protein_id": "ENSP00000573840.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 336,
"cds_start": 221,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903781.1"
},
{
"aa_ref": "I",
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{
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{
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{
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],
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"dbsnp": "rs781023784",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.9803122878074646,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_score": 0.934,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000035.4",
"gene_symbol": "ALDOB",
"hgnc_id": 417,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.221T>G",
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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
}