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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: 19-57443615-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57443615&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57443615,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000334181.5",
"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": "ZNF749",
"gene_hgnc_id": 32783,
"hgvs_c": "c.467A>C",
"hgvs_p": "p.Gln156Pro",
"transcript": "NM_001023561.4",
"protein_id": "NP_001018855.2",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 778,
"cds_start": 467,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": "ENST00000334181.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF749",
"gene_hgnc_id": 32783,
"hgvs_c": "c.467A>C",
"hgvs_p": "p.Gln156Pro",
"transcript": "ENST00000334181.5",
"protein_id": "ENSP00000333980.4",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 778,
"cds_start": 467,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": "NM_001023561.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268163",
"gene_hgnc_id": null,
"hgvs_c": "c.348-5523T>G",
"hgvs_p": null,
"transcript": "ENST00000596831.1",
"protein_id": "ENSP00000470969.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF749",
"gene_hgnc_id": 32783,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Gln149Pro",
"transcript": "NM_001321952.2",
"protein_id": "NP_001308881.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 771,
"cds_start": 446,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"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": "ZNF749",
"gene_hgnc_id": 32783,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Gln69Pro",
"transcript": "NM_001321953.2",
"protein_id": "NP_001308882.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 691,
"cds_start": 206,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"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": "ZNF749",
"gene_hgnc_id": 32783,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Gln69Pro",
"transcript": "NM_001321954.2",
"protein_id": "NP_001308883.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 691,
"cds_start": 206,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF749",
"gene_hgnc_id": 32783,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Gln149Pro",
"transcript": "XM_011526956.3",
"protein_id": "XP_011525258.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 771,
"cds_start": 446,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ZNF749",
"gene_hgnc_id": 32783,
"hgvs_c": "c.*8A>C",
"hgvs_p": null,
"transcript": "ENST00000415248.1",
"protein_id": "ENSP00000397745.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": -4,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF749",
"gene_hgnc_id": 32783,
"dbsnp": "rs181745270",
"frequency_reference_population": 6.8404506e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19039371609687805,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.1046,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.577,
"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": 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": "ENST00000334181.5",
"gene_symbol": "ZNF749",
"hgnc_id": 32783,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.467A>C",
"hgvs_p": "p.Gln156Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000596831.1",
"gene_symbol": "ENSG00000268163",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.348-5523T>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
}