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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: 11-110579948-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=110579948&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 110579948,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001384657.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2998G>A",
"hgvs_p": "p.Gly1000Arg",
"transcript": "NM_001384657.1",
"protein_id": "NP_001371586.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 3204,
"cdna_end": null,
"cdna_length": 6109,
"mane_select": "ENST00000683387.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2998G>A",
"hgvs_p": "p.Gly1000Arg",
"transcript": "ENST00000683387.1",
"protein_id": "ENSP00000507405.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 3204,
"cdna_end": null,
"cdna_length": 6109,
"mane_select": "NM_001384657.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2998G>A",
"hgvs_p": "p.Gly1000Arg",
"transcript": "ENST00000260283.8",
"protein_id": "ENSP00000260283.4",
"transcript_support_level": 1,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 3283,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2929G>A",
"hgvs_p": "p.Gly977Arg",
"transcript": "ENST00000524756.5",
"protein_id": "ENSP00000432076.1",
"transcript_support_level": 1,
"aa_start": 977,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3286,
"cdna_end": null,
"cdna_length": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2920G>A",
"hgvs_p": "p.Gly974Arg",
"transcript": "ENST00000533353.5",
"protein_id": "ENSP00000436522.1",
"transcript_support_level": 1,
"aa_start": 974,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2920,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3172,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2890G>A",
"hgvs_p": "p.Gly964Arg",
"transcript": "ENST00000527598.1",
"protein_id": "ENSP00000431399.1",
"transcript_support_level": 1,
"aa_start": 964,
"aa_end": null,
"aa_length": 1155,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 3104,
"cdna_end": null,
"cdna_length": 5998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2890G>A",
"hgvs_p": "p.Gly964Arg",
"transcript": "ENST00000528829.5",
"protein_id": "ENSP00000436319.1",
"transcript_support_level": 1,
"aa_start": 964,
"aa_end": null,
"aa_length": 1155,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 2986,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Gly543Arg",
"transcript": "ENST00000529591.5",
"protein_id": "ENSP00000437905.1",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 731,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2998G>A",
"hgvs_p": "p.Gly1000Arg",
"transcript": "NM_020809.4",
"protein_id": "NP_065860.2",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 3283,
"cdna_end": null,
"cdna_length": 6188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2929G>A",
"hgvs_p": "p.Gly977Arg",
"transcript": "NM_001258415.2",
"protein_id": "NP_001245344.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2920G>A",
"hgvs_p": "p.Gly974Arg",
"transcript": "NM_001258416.2",
"protein_id": "NP_001245345.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2920,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3172,
"cdna_end": null,
"cdna_length": 6077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2890G>A",
"hgvs_p": "p.Gly964Arg",
"transcript": "NM_001258417.2",
"protein_id": "NP_001245346.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1155,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 2986,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.2890G>A",
"hgvs_p": "p.Gly964Arg",
"transcript": "NM_001258418.2",
"protein_id": "NP_001245347.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1155,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 3104,
"cdna_end": null,
"cdna_length": 6009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Gly543Arg",
"transcript": "XM_005271628.4",
"protein_id": "XP_005271685.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 734,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGAP20",
"gene_hgnc_id": 18357,
"dbsnp": "rs199551649",
"frequency_reference_population": 0.00030727143,
"hom_count_reference_population": 0,
"allele_count_reference_population": 496,
"gnomad_exomes_af": 0.000322189,
"gnomad_genomes_af": 0.000164113,
"gnomad_exomes_ac": 471,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.022230476140975952,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.1139,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.308,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001384657.1",
"gene_symbol": "ARHGAP20",
"hgnc_id": 18357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2998G>A",
"hgvs_p": "p.Gly1000Arg"
}
],
"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
}