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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: 19-12549580-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12549580&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12549580,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_144976.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF564",
"gene_hgnc_id": 31106,
"hgvs_c": "c.3+1750A>G",
"hgvs_p": null,
"transcript": "NM_144976.4",
"protein_id": "NP_659413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339282.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144976.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF564",
"gene_hgnc_id": 31106,
"hgvs_c": "c.3+1750A>G",
"hgvs_p": null,
"transcript": "ENST00000339282.12",
"protein_id": "ENSP00000340004.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144976.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339282.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000196826",
"gene_hgnc_id": null,
"hgvs_c": "c.3+1750A>G",
"hgvs_p": null,
"transcript": "ENST00000428311.1",
"protein_id": "ENSP00000404127.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428311.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269693",
"gene_hgnc_id": null,
"hgvs_c": "n.*2982-20884A>G",
"hgvs_p": null,
"transcript": "ENST00000593682.1",
"protein_id": "ENSP00000473043.1",
"transcript_support_level": 1,
"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": "ENST00000593682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF564",
"gene_hgnc_id": 31106,
"hgvs_c": "c.-207+1750A>G",
"hgvs_p": null,
"transcript": "ENST00000596193.1",
"protein_id": "ENSP00000470670.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": null,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596193.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF564",
"gene_hgnc_id": 31106,
"hgvs_c": "c.4-718A>G",
"hgvs_p": null,
"transcript": "ENST00000416136.1",
"protein_id": "ENSP00000408822.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 21,
"cds_start": null,
"cds_end": null,
"cds_length": 66,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416136.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF564",
"gene_hgnc_id": 31106,
"hgvs_c": "n.193+883A>G",
"hgvs_p": null,
"transcript": "ENST00000427105.1",
"protein_id": "ENSP00000415828.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000427105.1"
}
],
"gene_symbol": "ZNF564",
"gene_hgnc_id": 31106,
"dbsnp": "rs17638989",
"frequency_reference_population": 0.45102113,
"hom_count_reference_population": 16828,
"allele_count_reference_population": 68594,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.451021,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 68594,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 16828,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.311,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_144976.4",
"gene_symbol": "ZNF564",
"hgnc_id": 31106,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3+1750A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000428311.1",
"gene_symbol": "ENSG00000196826",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3+1750A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000593682.1",
"gene_symbol": "ENSG00000269693",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2982-20884A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}