← Back to variant description
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: 20-44419742-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44419742&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 44419742,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000457.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "NM_175914.5",
"protein_id": "NP_787110.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 452,
"cds_start": 692,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316673.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175914.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "ENST00000316673.9",
"protein_id": "ENSP00000315180.4",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 452,
"cds_start": 692,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175914.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316673.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "ENST00000316099.10",
"protein_id": "ENSP00000312987.3",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 474,
"cds_start": 758,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316099.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "ENST00000415691.2",
"protein_id": "ENSP00000412111.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 464,
"cds_start": 758,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415691.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "ENST00000457232.5",
"protein_id": "ENSP00000396216.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 442,
"cds_start": 692,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457232.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "ENST00000443598.6",
"protein_id": "ENSP00000410911.2",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 417,
"cds_start": 758,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443598.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "ENST00000609795.5",
"protein_id": "ENSP00000476609.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 395,
"cds_start": 692,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000609795.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "n.*525G>A",
"hgvs_p": null,
"transcript": "ENST00000372920.1",
"protein_id": "ENSP00000362011.1",
"transcript_support_level": 1,
"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": "ENST00000372920.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "n.*525G>A",
"hgvs_p": null,
"transcript": "ENST00000372920.1",
"protein_id": "ENSP00000362011.1",
"transcript_support_level": 1,
"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": "ENST00000372920.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "NM_000457.6",
"protein_id": "NP_000448.3",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 474,
"cds_start": 758,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000457.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "NM_001258355.2",
"protein_id": "NP_001245284.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 467,
"cds_start": 737,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258355.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "NM_178849.3",
"protein_id": "NP_849180.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 464,
"cds_start": 758,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178849.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"transcript": "NM_001287183.2",
"protein_id": "NP_001274112.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 449,
"cds_start": 683,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287183.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "NM_001030003.3",
"protein_id": "NP_001025174.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 442,
"cds_start": 692,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001030003.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"transcript": "NM_001287182.2",
"protein_id": "NP_001274111.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 439,
"cds_start": 683,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287182.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "NM_178850.3",
"protein_id": "NP_849181.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 417,
"cds_start": 758,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178850.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "NM_001030004.3",
"protein_id": "NP_001025175.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 395,
"cds_start": 692,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001030004.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"transcript": "NM_001287184.2",
"protein_id": "NP_001274113.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 392,
"cds_start": 683,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287184.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "ENST00000619550.5",
"protein_id": "ENSP00000481331.2",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 376,
"cds_start": 731,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619550.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "ENST00000894460.1",
"protein_id": "ENSP00000564519.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 373,
"cds_start": 692,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894460.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "XM_047440135.1",
"protein_id": "XP_047296091.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 474,
"cds_start": 758,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440135.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "XM_047440136.1",
"protein_id": "XP_047296092.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 474,
"cds_start": 758,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440136.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "XM_047440137.1",
"protein_id": "XP_047296093.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 474,
"cds_start": 758,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440137.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "XM_047440138.1",
"protein_id": "XP_047296094.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 464,
"cds_start": 758,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440138.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "n.734G>A",
"hgvs_p": null,
"transcript": "ENST00000683148.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000683148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"hgvs_c": "n.1882G>A",
"hgvs_p": null,
"transcript": "ENST00000683657.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000683657.1"
}
],
"gene_symbol": "HNF4A",
"gene_hgnc_id": 5024,
"dbsnp": "rs1555816615",
"frequency_reference_population": 0.0000013718607,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137186,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9760923385620117,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.896,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2805,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.106,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3,PM2_Supporting,PS4,PP1_Strong,PP4_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PP3",
"PM2_Supporting",
"PS4",
"PP1_Strong",
"PP4_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000457.6",
"gene_symbol": "HNF4A",
"hgnc_id": 5024,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln"
}
],
"clinvar_disease": "Maturity onset diabetes mellitus in young,Monogenic diabetes,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:3 LP:2",
"phenotype_combined": "not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}