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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: 15-59642217-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=59642217&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 59642217,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004492.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "NM_004492.3",
"protein_id": "NP_004483.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396060.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004492.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000396060.7",
"protein_id": "ENSP00000379372.2",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004492.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396060.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "NM_001320929.2",
"protein_id": "NP_001307858.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320929.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "NM_001320930.2",
"protein_id": "NP_001307859.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320930.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000396061.5",
"protein_id": "ENSP00000379373.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396061.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000396063.5",
"protein_id": "ENSP00000379375.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396063.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000885929.1",
"protein_id": "ENSP00000555988.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885929.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000885930.1",
"protein_id": "ENSP00000555989.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885930.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000885931.1",
"protein_id": "ENSP00000555990.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885931.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000885932.1",
"protein_id": "ENSP00000555991.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885932.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000885933.1",
"protein_id": "ENSP00000555992.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885933.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000885934.1",
"protein_id": "ENSP00000555993.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885934.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000885935.1",
"protein_id": "ENSP00000555994.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885935.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000933398.1",
"protein_id": "ENSP00000603457.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933398.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000933399.1",
"protein_id": "ENSP00000603458.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933399.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000933402.1",
"protein_id": "ENSP00000603461.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 109,
"cds_start": 223,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933402.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000933396.1",
"protein_id": "ENSP00000603455.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 107,
"cds_start": 223,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933396.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Ile",
"transcript": "ENST00000933400.1",
"protein_id": "ENSP00000603459.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 106,
"cds_start": 214,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933400.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Ile",
"transcript": "ENST00000933401.1",
"protein_id": "ENSP00000603460.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 106,
"cds_start": 214,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933401.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Ile",
"transcript": "ENST00000484743.5",
"protein_id": "ENSP00000418574.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 74,
"cds_start": 118,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484743.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Ile",
"transcript": "ENST00000933397.1",
"protein_id": "ENSP00000603456.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 74,
"cds_start": 118,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933397.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Ile",
"transcript": "ENST00000941618.1",
"protein_id": "ENSP00000611677.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 74,
"cds_start": 118,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941618.1"
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{
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{
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"biotype": "pseudogene",
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{
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"biotype": "pseudogene",
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],
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"allele_count_reference_population": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.30508238077163696,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004492.3",
"gene_symbol": "GTF2A2",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}