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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: 20-24970239-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=24970239&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APMAP",
"hgnc_id": 13238,
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Arg224Pro",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_020531.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.8326,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8723837733268738,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1251,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_020531.3",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Arg224Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000217456.3",
"protein_coding": true,
"protein_id": "NP_065392.1",
"strand": false,
"transcript": "NM_020531.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1251,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000217456.3",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Arg224Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020531.3",
"protein_coding": true,
"protein_id": "ENSP00000217456.2",
"strand": false,
"transcript": "ENST00000217456.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 460,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1383,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932674.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Arg224Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602733.1",
"strand": false,
"transcript": "ENST00000932674.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 430,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1293,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881539.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Arg224Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551598.1",
"strand": false,
"transcript": "ENST00000881539.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1281,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881536.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Arg234Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551595.1",
"strand": false,
"transcript": "ENST00000881536.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1266,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932675.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Arg185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602734.1",
"strand": false,
"transcript": "ENST00000932675.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881540.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.665G>C",
"hgvs_p": "p.Arg222Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551599.1",
"strand": false,
"transcript": "ENST00000881540.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1242,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932672.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.662G>C",
"hgvs_p": "p.Arg221Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602731.1",
"strand": false,
"transcript": "ENST00000932672.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1227,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000451442.5",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.623G>C",
"hgvs_p": "p.Arg208Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395874.1",
"strand": false,
"transcript": "ENST00000451442.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1134,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881535.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Arg185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551594.1",
"strand": false,
"transcript": "ENST00000881535.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1134,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881537.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Arg185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551596.1",
"strand": false,
"transcript": "ENST00000881537.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 349,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1050,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881538.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Arg224Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551597.1",
"strand": false,
"transcript": "ENST00000881538.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 544,
"cds_end": null,
"cds_length": 1041,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932673.1",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602732.1",
"strand": false,
"transcript": "ENST00000932673.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 289,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 734,
"cds_end": null,
"cds_length": 870,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005260763.4",
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Arg224Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005260820.1",
"strand": false,
"transcript": "XM_005260763.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs779248044",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 13238,
"gene_symbol": "APMAP",
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.894,
"pos": 24970239,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.372,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020531.3"
}
]
}