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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: X-131084303-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=131084303&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 131084303,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144967.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "NM_144967.4",
"protein_id": "NP_659404.2",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 547,
"cds_start": 644,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276211.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144967.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "ENST00000276211.10",
"protein_id": "ENSP00000276211.5",
"transcript_support_level": 2,
"aa_start": 215,
"aa_end": null,
"aa_length": 547,
"cds_start": 644,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144967.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276211.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "ENST00000370922.5",
"protein_id": "ENSP00000359960.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 535,
"cds_start": 608,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370922.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.551T>C",
"hgvs_p": "p.Ile184Thr",
"transcript": "ENST00000412432.6",
"protein_id": "ENSP00000408515.2",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 516,
"cds_start": 551,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412432.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"transcript": "ENST00000639280.1",
"protein_id": "ENSP00000492307.1",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 411,
"cds_start": 236,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639280.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "NM_001282607.2",
"protein_id": "NP_001269536.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 535,
"cds_start": 608,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282607.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"transcript": "NM_001330651.1",
"protein_id": "NP_001317580.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 411,
"cds_start": 236,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330651.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"transcript": "ENST00000370921.1",
"protein_id": "ENSP00000359959.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 411,
"cds_start": 236,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370921.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.500T>C",
"hgvs_p": "p.Ile167Thr",
"transcript": "ENST00000423277.5",
"protein_id": "ENSP00000409218.1",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 217,
"cds_start": 500,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423277.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"transcript": "XM_011531280.2",
"protein_id": "XP_011529582.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 411,
"cds_start": 236,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531280.2"
}
],
"gene_symbol": "ARHGAP36",
"gene_hgnc_id": 26388,
"dbsnp": "rs1025193472",
"frequency_reference_population": 0.000008262571,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000728534,
"gnomad_genomes_af": 0.0000178282,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3451027572154999,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.1185,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.564,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_144967.4",
"gene_symbol": "ARHGAP36",
"hgnc_id": 26388,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr"
}
],
"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
}