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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: 5-73852656-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=73852656&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 73852656,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000513042.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Arg585Lys",
"transcript": "NM_001177693.2",
"protein_id": "NP_001171164.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1705,
"cds_start": 1754,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": "ENST00000513042.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Arg585Lys",
"transcript": "ENST00000513042.7",
"protein_id": "ENSP00000441436.1",
"transcript_support_level": 5,
"aa_start": 585,
"aa_end": null,
"aa_length": 1705,
"cds_start": 1754,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": "NM_001177693.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Arg585Lys",
"transcript": "ENST00000437974.5",
"protein_id": "ENSP00000411459.1",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 1731,
"cds_start": 1754,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 5792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Arg585Lys",
"transcript": "ENST00000426542.6",
"protein_id": "ENSP00000412175.2",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 1705,
"cds_start": 1754,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 6118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Arg585Lys",
"transcript": "NM_001080479.3",
"protein_id": "NP_001073948.2",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1731,
"cds_start": 1754,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 6311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Arg585Lys",
"transcript": "ENST00000545377.5",
"protein_id": "ENSP00000441913.1",
"transcript_support_level": 5,
"aa_start": 585,
"aa_end": null,
"aa_length": 1731,
"cds_start": 1754,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Arg585Lys",
"transcript": "NM_001388078.1",
"protein_id": "NP_001375007.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1651,
"cds_start": 1754,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Arg585Lys",
"transcript": "ENST00000296794.10",
"protein_id": "ENSP00000296794.6",
"transcript_support_level": 5,
"aa_start": 585,
"aa_end": null,
"aa_length": 1651,
"cds_start": 1754,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487Lys",
"transcript": "NM_001388076.1",
"protein_id": "NP_001375005.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1607,
"cds_start": 1460,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Lys",
"transcript": "NM_001244364.2",
"protein_id": "NP_001231293.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1392,
"cds_start": 815,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 5199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Lys",
"transcript": "ENST00000296799.8",
"protein_id": "ENSP00000296799.4",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 1392,
"cds_start": 815,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGEF28",
"gene_hgnc_id": 30322,
"dbsnp": "rs2973566",
"frequency_reference_population": 0.27044594,
"hom_count_reference_population": 61846,
"allele_count_reference_population": 435802,
"gnomad_exomes_af": 0.274717,
"gnomad_genomes_af": 0.229452,
"gnomad_exomes_ac": 400918,
"gnomad_genomes_ac": 34884,
"gnomad_exomes_homalt": 57358,
"gnomad_genomes_homalt": 4488,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0014189481735229492,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.1192,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.545,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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.1754G>A",
"hgvs_p": "p.Arg585Lys"
}
],
"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
}