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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: 17-8313035-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8313035&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8313035,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_025014.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "NM_173728.4",
"protein_id": "NP_776089.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 841,
"cds_start": 715,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361926.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173728.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "ENST00000361926.8",
"protein_id": "ENSP00000355026.3",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 841,
"cds_start": 715,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173728.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361926.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "ENST00000421050.2",
"protein_id": "ENSP00000412505.1",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 841,
"cds_start": 715,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421050.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "ENST00000852584.1",
"protein_id": "ENSP00000522643.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 856,
"cds_start": 715,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852584.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "NM_025014.2",
"protein_id": "NP_079290.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 841,
"cds_start": 715,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025014.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "ENST00000852586.1",
"protein_id": "ENSP00000522645.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 790,
"cds_start": 715,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852586.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "XM_011523734.3",
"protein_id": "XP_011522036.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 856,
"cds_start": 715,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523734.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "XM_011523735.2",
"protein_id": "XP_011522037.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 856,
"cds_start": 715,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523735.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "XM_011523736.3",
"protein_id": "XP_011522038.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 792,
"cds_start": 715,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523736.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "XM_047435631.1",
"protein_id": "XP_047291587.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 777,
"cds_start": 715,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435631.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.601+395C>A",
"hgvs_p": null,
"transcript": "ENST00000852585.1",
"protein_id": "ENSP00000522644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": null,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "n.1109C>A",
"hgvs_p": null,
"transcript": "ENST00000455564.3",
"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": "ENST00000455564.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226871",
"gene_hgnc_id": null,
"hgvs_c": "n.313+5531G>T",
"hgvs_p": null,
"transcript": "ENST00000820533.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000820533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226871",
"gene_hgnc_id": null,
"hgvs_c": "n.212+2415G>T",
"hgvs_p": null,
"transcript": "ENST00000820534.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000820534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.-69C>A",
"hgvs_p": null,
"transcript": "ENST00000647883.1",
"protein_id": "ENSP00000498197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": null,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647883.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "c.*92C>A",
"hgvs_p": null,
"transcript": "ENST00000579439.5",
"protein_id": "ENSP00000464540.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579439.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"hgvs_c": "n.-6C>A",
"hgvs_p": null,
"transcript": "ENST00000581809.1",
"protein_id": "ENSP00000463875.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000581809.1"
}
],
"gene_symbol": "ARHGEF15",
"gene_hgnc_id": 15590,
"dbsnp": "rs200249246",
"frequency_reference_population": 0.0000013688186,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136882,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04500952363014221,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.133,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.213,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_025014.2",
"gene_symbol": "ARHGEF15",
"hgnc_id": 15590,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000820533.1",
"gene_symbol": "ENSG00000226871",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.313+5531G>T",
"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
}