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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: 20-44355805-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44355805&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2_Supporting",
"PS4_Moderate",
"PP1_Strong",
"PVS1_Strong",
"PP4_Moderate"
],
"effects": [
"start_lost"
],
"gene_symbol": "HNF4A",
"hgnc_id": 5024,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"inheritance_mode": "AD",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_175914.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "R3HDML-AS1",
"hgnc_id": 55830,
"hgvs_c": "n.-208T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 14,
"score": 14,
"transcript": "ENST00000735551.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2_Supporting,PS4_Moderate,PP1_Strong,PVS1_Strong,PP4_Moderate",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "20",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Monogenic diabetes",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9914352893829346,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 452,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 107,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_175914.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316673.9",
"protein_coding": true,
"protein_id": "NP_787110.2",
"strand": true,
"transcript": "NM_175914.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 452,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 107,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000316673.9",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_175914.5",
"protein_coding": true,
"protein_id": "ENSP00000315180.4",
"strand": true,
"transcript": "ENST00000316673.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 442,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 5,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000457232.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396216.1",
"strand": true,
"transcript": "ENST00000457232.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 395,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 5,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000609795.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476609.1",
"strand": true,
"transcript": "ENST00000609795.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 102,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 540,
"cdna_start": null,
"cds_end": null,
"cds_length": 309,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000609262.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.-231A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476310.1",
"strand": true,
"transcript": "ENST00000609262.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 442,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6366,
"cdna_start": 107,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001030003.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001025174.1",
"strand": true,
"transcript": "NM_001030003.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 395,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 107,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001030004.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001025175.1",
"strand": true,
"transcript": "NM_001030004.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 373,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 105,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000894460.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564519.1",
"strand": true,
"transcript": "ENST00000894460.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4867,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001287183.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.-231A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274112.1",
"strand": true,
"transcript": "NM_001287183.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 439,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6588,
"cdna_start": null,
"cds_end": null,
"cds_length": 1320,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001287182.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.-231A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274111.1",
"strand": true,
"transcript": "NM_001287182.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 392,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": null,
"cds_end": null,
"cds_length": 1179,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001287184.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.-231A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274113.1",
"strand": true,
"transcript": "NM_001287184.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 474,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7837,
"cdna_start": null,
"cds_end": null,
"cds_length": 1425,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047440135.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.-1375A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296091.1",
"strand": true,
"transcript": "XM_047440135.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 474,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7613,
"cdna_start": null,
"cds_end": null,
"cds_length": 1425,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047440136.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.-1151A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296092.1",
"strand": true,
"transcript": "XM_047440136.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 474,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7433,
"cdna_start": null,
"cds_end": null,
"cds_length": 1425,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047440137.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.-971A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296093.1",
"strand": true,
"transcript": "XM_047440137.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7974,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047440138.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.-1542A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296094.1",
"strand": true,
"transcript": "XM_047440138.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1298,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000735551.1",
"gene_hgnc_id": 55830,
"gene_symbol": "R3HDML-AS1",
"hgvs_c": "n.-208T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000735551.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "start_lost",
"frequency_reference_population": null,
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Monogenic diabetes",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.468,
"pos": 44355805,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.619,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_175914.5"
}
]
}