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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: 2-27123973-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27123973&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABHD1",
"hgnc_id": 17553,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Gln9Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_032604.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": 0.0719,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10544237494468689,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 405,
"aa_ref": "Q",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 159,
"cds_end": null,
"cds_length": 1218,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_032604.4",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Gln9Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316470.9",
"protein_coding": true,
"protein_id": "NP_115993.3",
"strand": true,
"transcript": "NM_032604.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 405,
"aa_ref": "Q",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 159,
"cds_end": null,
"cds_length": 1218,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000316470.9",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Gln9Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032604.4",
"protein_coding": true,
"protein_id": "ENSP00000326491.4",
"strand": true,
"transcript": "ENST00000316470.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1167,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000420647.5",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "n.-4C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390390.1",
"strand": true,
"transcript": "ENST00000420647.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000489120.5",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "n.185C>G",
"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": "ENST00000489120.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1167,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000420647.5",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "n.-4C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390390.1",
"strand": true,
"transcript": "ENST00000420647.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 305,
"aa_ref": "Q",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 185,
"cds_end": null,
"cds_length": 918,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000621324.4",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Gln9Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481238.1",
"strand": true,
"transcript": "ENST00000621324.4",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 269,
"aa_ref": "Q",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 906,
"cdna_start": 55,
"cds_end": null,
"cds_length": 810,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971723.1",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Gln9Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641782.1",
"strand": true,
"transcript": "ENST00000971723.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 316,
"aa_ref": "Q",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1142,
"cdna_start": 159,
"cds_end": null,
"cds_length": 951,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011533135.4",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Gln9Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531437.1",
"strand": true,
"transcript": "XM_011533135.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 305,
"aa_ref": "Q",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1115,
"cdna_start": 159,
"cds_end": null,
"cds_length": 918,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011533136.4",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Gln9Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531438.1",
"strand": true,
"transcript": "XM_011533136.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 284,
"aa_ref": "Q",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1091,
"cdna_start": 159,
"cds_end": null,
"cds_length": 855,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011533137.4",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Gln9Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531439.1",
"strand": true,
"transcript": "XM_011533137.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 176,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 668,
"cdna_start": null,
"cds_end": null,
"cds_length": 531,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000416071.1",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "c.-4C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397522.1",
"strand": true,
"transcript": "ENST00000416071.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 981,
"cdna_start": null,
"cds_end": null,
"cds_length": 762,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011533138.4",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "c.-4C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531440.1",
"strand": true,
"transcript": "XM_011533138.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000448950.5",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "n.25C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000410756.1",
"strand": true,
"transcript": "ENST00000448950.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000622011.1",
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"hgvs_c": "n.119C>G",
"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": "ENST00000622011.1",
"transcript_support_level": 6
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs375202801",
"effect": "missense_variant",
"frequency_reference_population": 0.000014249056,
"gene_hgnc_id": 17553,
"gene_symbol": "ABHD1",
"gnomad_exomes_ac": 15,
"gnomad_exomes_af": 0.0000102608,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000525396,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.181,
"pos": 27123973,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.051,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_032604.4"
}
]
}