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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: 19-44328509-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44328509&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44328509,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001348281.2",
"consequences": [
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Glu550Lys",
"transcript": "NM_013380.4",
"protein_id": "NP_037512.3",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 907,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354340.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013380.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Glu550Lys",
"transcript": "ENST00000354340.9",
"protein_id": "ENSP00000346305.3",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 907,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013380.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354340.9"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Glu556Lys",
"transcript": "ENST00000337401.8",
"protein_id": "ENSP00000337081.3",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 913,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337401.8"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1717G>A",
"hgvs_p": "p.Glu573Lys",
"transcript": "NM_001348281.2",
"protein_id": "NP_001335210.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 930,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348281.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Glu556Lys",
"transcript": "NM_001083335.2",
"protein_id": "NP_001076804.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 913,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083335.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Glu550Lys",
"transcript": "NM_001348282.2",
"protein_id": "NP_001335211.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 907,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348282.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Glu550Lys",
"transcript": "NM_001348283.1",
"protein_id": "NP_001335212.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 907,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348283.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Glu550Lys",
"transcript": "ENST00000911245.1",
"protein_id": "ENSP00000581304.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 907,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911245.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Glu550Lys",
"transcript": "ENST00000911246.1",
"protein_id": "ENSP00000581305.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 907,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911246.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Glu550Lys",
"transcript": "ENST00000911247.1",
"protein_id": "ENSP00000581306.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 907,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911247.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"transcript": "NM_001348284.2",
"protein_id": "NP_001335213.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 846,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348284.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"transcript": "NM_001348285.2",
"protein_id": "NP_001335214.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 846,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348285.2"
}
],
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"dbsnp": "rs139777621",
"frequency_reference_population": 0.0000319442,
"hom_count_reference_population": 1,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000318503,
"gnomad_genomes_af": 0.0000328351,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05053052306175232,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.166,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.577,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001348281.2",
"gene_symbol": "ZNF112",
"hgnc_id": 12892,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1717G>A",
"hgvs_p": "p.Glu573Lys"
}
],
"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
}