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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: 19-52373173-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52373173&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52373173,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145434.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "NM_001145434.2",
"protein_id": "NP_001138906.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 577,
"cds_start": 75,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000422689.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145434.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "ENST00000422689.3",
"protein_id": "ENSP00000406318.2",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 577,
"cds_start": 75,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145434.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422689.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "ENST00000344085.9",
"protein_id": "ENSP00000343625.5",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 98,
"cds_start": 75,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344085.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "ENST00000906539.1",
"protein_id": "ENSP00000576598.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 577,
"cds_start": 75,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906539.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "ENST00000945824.1",
"protein_id": "ENSP00000615883.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 573,
"cds_start": 75,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945824.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "ENST00000424032.6",
"protein_id": "ENSP00000414470.2",
"transcript_support_level": 4,
"aa_start": 25,
"aa_end": null,
"aa_length": 125,
"cds_start": 75,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424032.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "ENST00000600321.5",
"protein_id": "ENSP00000471067.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 125,
"cds_start": 75,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600321.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "ENST00000597976.5",
"protein_id": "ENSP00000471324.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 117,
"cds_start": 75,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597976.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "XM_017026812.3",
"protein_id": "XP_016882301.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 577,
"cds_start": 75,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026812.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "XM_047438837.1",
"protein_id": "XP_047294793.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 188,
"cds_start": 75,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438837.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu",
"transcript": "XM_047438838.1",
"protein_id": "XP_047294794.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 152,
"cds_start": 75,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "n.118C>A",
"hgvs_p": null,
"transcript": "XR_001753688.3",
"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": "XR_001753688.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "n.130C>A",
"hgvs_p": null,
"transcript": "XR_007066826.1",
"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": "XR_007066826.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"hgvs_c": "n.*22C>A",
"hgvs_p": null,
"transcript": "ENST00000595099.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000595099.1"
}
],
"gene_symbol": "ZNF880",
"gene_hgnc_id": 37249,
"dbsnp": "rs750617565",
"frequency_reference_population": 0.000009917904,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000752799,
"gnomad_genomes_af": 0.0000328882,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09991338849067688,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.4314,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.69,
"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_001145434.2",
"gene_symbol": "ZNF880",
"hgnc_id": 37249,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.75C>A",
"hgvs_p": "p.Asp25Glu"
}
],
"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
}