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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: 20-24970345-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=24970345&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 24970345,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020531.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "NM_020531.3",
"protein_id": "NP_065392.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 416,
"cds_start": 565,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217456.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020531.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "ENST00000217456.3",
"protein_id": "ENSP00000217456.2",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 416,
"cds_start": 565,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020531.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217456.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "ENST00000932674.1",
"protein_id": "ENSP00000602733.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 460,
"cds_start": 565,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932674.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "ENST00000881539.1",
"protein_id": "ENSP00000551598.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 430,
"cds_start": 565,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881539.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Glu199Lys",
"transcript": "ENST00000881536.1",
"protein_id": "ENSP00000551595.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 426,
"cds_start": 595,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881536.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Glu150Lys",
"transcript": "ENST00000932675.1",
"protein_id": "ENSP00000602734.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 421,
"cds_start": 448,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932675.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Glu187Lys",
"transcript": "ENST00000881540.1",
"protein_id": "ENSP00000551599.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 414,
"cds_start": 559,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881540.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Glu186Lys",
"transcript": "ENST00000932672.1",
"protein_id": "ENSP00000602731.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 413,
"cds_start": 556,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932672.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Glu173Lys",
"transcript": "ENST00000451442.5",
"protein_id": "ENSP00000395874.1",
"transcript_support_level": 5,
"aa_start": 173,
"aa_end": null,
"aa_length": 408,
"cds_start": 517,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451442.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Glu150Lys",
"transcript": "ENST00000881535.1",
"protein_id": "ENSP00000551594.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 377,
"cds_start": 448,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881535.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Glu150Lys",
"transcript": "ENST00000881537.1",
"protein_id": "ENSP00000551596.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 377,
"cds_start": 448,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881537.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "ENST00000881538.1",
"protein_id": "ENSP00000551597.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 349,
"cds_start": 565,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881538.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Glu119Lys",
"transcript": "ENST00000932673.1",
"protein_id": "ENSP00000602732.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932673.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "XM_005260763.4",
"protein_id": "XP_005260820.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 289,
"cds_start": 565,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260763.4"
}
],
"gene_symbol": "APMAP",
"gene_hgnc_id": 13238,
"dbsnp": "rs895578255",
"frequency_reference_population": 0.000004961136,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479285,
"gnomad_genomes_af": 0.00000657791,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06889021396636963,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0668,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020531.3",
"gene_symbol": "APMAP",
"hgnc_id": 13238,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}