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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: 1-40462429-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40462429&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 40462429,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_023070.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ser149Gly",
"transcript": "NM_023070.3",
"protein_id": "NP_075558.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 534,
"cds_start": 445,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361584.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023070.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ser149Gly",
"transcript": "ENST00000361584.5",
"protein_id": "ENSP00000354547.4",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 534,
"cds_start": 445,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023070.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361584.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Glu120Gly",
"transcript": "ENST00000484445.5",
"protein_id": "ENSP00000435907.1",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 131,
"cds_start": 359,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484445.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ser150Gly",
"transcript": "ENST00000863980.1",
"protein_id": "ENSP00000534039.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 535,
"cds_start": 448,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863980.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ser150Gly",
"transcript": "ENST00000961485.1",
"protein_id": "ENSP00000631544.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 535,
"cds_start": 448,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961485.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ser149Gly",
"transcript": "NM_001369565.1",
"protein_id": "NP_001356494.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 534,
"cds_start": 445,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369565.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ser149Gly",
"transcript": "ENST00000411995.6",
"protein_id": "ENSP00000399664.2",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 534,
"cds_start": 445,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411995.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ser149Gly",
"transcript": "ENST00000863981.1",
"protein_id": "ENSP00000534040.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 534,
"cds_start": 445,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863981.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ser149Gly",
"transcript": "ENST00000961486.1",
"protein_id": "ENSP00000631545.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 534,
"cds_start": 445,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961486.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ser150Gly",
"transcript": "XM_005271136.2",
"protein_id": "XP_005271193.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 535,
"cds_start": 448,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271136.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ser150Gly",
"transcript": "XM_017002147.2",
"protein_id": "XP_016857636.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 535,
"cds_start": 448,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002147.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"hgvs_c": "n.1097A>G",
"hgvs_p": null,
"transcript": "ENST00000469416.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000469416.1"
}
],
"gene_symbol": "ZFP69B",
"gene_hgnc_id": 28053,
"dbsnp": "rs773022185",
"frequency_reference_population": 0.00004998418,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000504087,
"gnomad_genomes_af": 0.000046,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06409910321235657,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.071,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.676,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_023070.3",
"gene_symbol": "ZFP69B",
"hgnc_id": 28053,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ser149Gly"
}
],
"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
}