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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: 5-73776529-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=73776529&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 73776529,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000513042.7",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "NM_001177693.2",
"protein_id": "NP_001171164.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1705,
"cds_start": 673,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": "ENST00000513042.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "ENST00000513042.7",
"protein_id": "ENSP00000441436.1",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 1705,
"cds_start": 673,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": "NM_001177693.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "ENST00000437974.5",
"protein_id": "ENSP00000411459.1",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 1731,
"cds_start": 673,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 5792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "ENST00000426542.6",
"protein_id": "ENSP00000412175.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 1705,
"cds_start": 673,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 6118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "NM_001080479.3",
"protein_id": "NP_001073948.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1731,
"cds_start": 673,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 6311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "ENST00000545377.5",
"protein_id": "ENSP00000441913.1",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 1731,
"cds_start": 673,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "NM_001388078.1",
"protein_id": "NP_001375007.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1651,
"cds_start": 673,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "ENST00000296794.10",
"protein_id": "ENSP00000296794.6",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 1651,
"cds_start": 673,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Trp127Arg",
"transcript": "NM_001388076.1",
"protein_id": "NP_001375005.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 1607,
"cds_start": 379,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"dbsnp": "rs7714670",
"frequency_reference_population": 0.44685334,
"hom_count_reference_population": 162170,
"allele_count_reference_population": 718609,
"gnomad_exomes_af": 0.449827,
"gnomad_genomes_af": 0.418349,
"gnomad_exomes_ac": 655056,
"gnomad_genomes_ac": 63553,
"gnomad_exomes_homalt": 148681,
"gnomad_genomes_homalt": 13489,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0001538097858428955,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.243,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000513042.7",
"gene_symbol": "ARHGEF28",
"hgnc_id": 30322,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}