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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: 19-57779087-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57779087&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57779087,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017652.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "c.500A>C",
"hgvs_p": "p.Gln167Pro",
"transcript": "NM_017652.4",
"protein_id": "NP_060122.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 402,
"cds_start": 500,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396154.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017652.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "c.500A>C",
"hgvs_p": "p.Gln167Pro",
"transcript": "ENST00000396154.7",
"protein_id": "ENSP00000379458.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 402,
"cds_start": 500,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017652.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396154.7"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "c.373A>C",
"hgvs_p": "p.Ser125Arg",
"transcript": "ENST00000396150.4",
"protein_id": "ENSP00000379454.3",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 210,
"cds_start": 373,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396150.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "c.371A>C",
"hgvs_p": "p.Gln124Pro",
"transcript": "NM_001204814.2",
"protein_id": "NP_001191743.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 359,
"cds_start": 371,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204814.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "c.371A>C",
"hgvs_p": "p.Gln124Pro",
"transcript": "ENST00000391702.3",
"protein_id": "ENSP00000375583.3",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 359,
"cds_start": 371,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391702.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "c.373A>C",
"hgvs_p": "p.Ser125Arg",
"transcript": "NM_001077426.3",
"protein_id": "NP_001070894.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 210,
"cds_start": 373,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077426.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "c.36+9209A>C",
"hgvs_p": null,
"transcript": "ENST00000598885.5",
"protein_id": "ENSP00000470397.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598885.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "c.36+9209A>C",
"hgvs_p": null,
"transcript": "ENST00000598183.1",
"protein_id": "ENSP00000471663.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "c.36+9209A>C",
"hgvs_p": null,
"transcript": "ENST00000599802.1",
"protein_id": "ENSP00000472972.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 23,
"cds_start": null,
"cds_end": null,
"cds_length": 72,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599802.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"hgvs_c": "n.163+2418A>C",
"hgvs_p": null,
"transcript": "ENST00000651718.1",
"protein_id": "ENSP00000498256.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000651718.1"
}
],
"gene_symbol": "ZNF586",
"gene_hgnc_id": 25949,
"dbsnp": "rs1600081472",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18431136012077332,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.1613,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.697,
"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_017652.4",
"gene_symbol": "ZNF586",
"hgnc_id": 25949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.500A>C",
"hgvs_p": "p.Gln167Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}