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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: 7-76515138-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=76515138&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 76515138,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001347684.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"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": "UPK3B",
"gene_hgnc_id": 21444,
"hgvs_c": "c.765A>C",
"hgvs_p": "p.Arg255Ser",
"transcript": "NM_001347684.2",
"protein_id": "NP_001334613.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 276,
"cds_start": 765,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334348.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347684.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"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": "UPK3B",
"gene_hgnc_id": 21444,
"hgvs_c": "c.765A>C",
"hgvs_p": "p.Arg255Ser",
"transcript": "ENST00000334348.8",
"protein_id": "ENSP00000334938.3",
"transcript_support_level": 2,
"aa_start": 255,
"aa_end": null,
"aa_length": 276,
"cds_start": 765,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001347684.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334348.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "UPK3B",
"gene_hgnc_id": 21444,
"hgvs_c": "c.768A>C",
"hgvs_p": "p.Arg256Ser",
"transcript": "ENST00000911147.1",
"protein_id": "ENSP00000581206.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 277,
"cds_start": 768,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911147.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPK3B",
"gene_hgnc_id": 21444,
"hgvs_c": "c.850A>C",
"hgvs_p": "p.Arg284Arg",
"transcript": "ENST00000257632.9",
"protein_id": "ENSP00000257632.5",
"transcript_support_level": 2,
"aa_start": 284,
"aa_end": null,
"aa_length": 320,
"cds_start": 850,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257632.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPK3B",
"gene_hgnc_id": 21444,
"hgvs_c": "c.685A>C",
"hgvs_p": "p.Arg229Arg",
"transcript": "ENST00000394849.1",
"protein_id": "ENSP00000378319.1",
"transcript_support_level": 2,
"aa_start": 229,
"aa_end": null,
"aa_length": 265,
"cds_start": 685,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394849.1"
}
],
"gene_symbol": "UPK3B",
"gene_hgnc_id": 21444,
"dbsnp": "rs1799125",
"frequency_reference_population": 0.9979291,
"hom_count_reference_population": 796600,
"allele_count_reference_population": 1596455,
"gnomad_exomes_af": 0.998909,
"gnomad_genomes_af": 0.988612,
"gnomad_exomes_ac": 1446008,
"gnomad_genomes_ac": 150447,
"gnomad_exomes_homalt": 722228,
"gnomad_genomes_homalt": 74372,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.153622499979974e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.0606,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.523,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_001347684.2",
"gene_symbol": "UPK3B",
"hgnc_id": 21444,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.765A>C",
"hgvs_p": "p.Arg255Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}