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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: 6-89264495-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=89264495&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 89264495,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000402938.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.1003G>T",
"hgvs_p": "p.Val335Leu",
"transcript": "NM_002043.5",
"protein_id": "NP_002034.3",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 465,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": "ENST00000402938.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.1003G>T",
"hgvs_p": "p.Val335Leu",
"transcript": "ENST00000402938.4",
"protein_id": "ENSP00000386029.4",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 465,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": "NM_002043.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.1078G>T",
"hgvs_p": "p.Val360Leu",
"transcript": "XM_047418599.1",
"protein_id": "XP_047274555.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 409,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.706G>T",
"hgvs_p": "p.Val236Leu",
"transcript": "XM_011535714.4",
"protein_id": "XP_011534016.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 366,
"cds_start": 706,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 5678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.706G>T",
"hgvs_p": "p.Val236Leu",
"transcript": "XM_011535715.4",
"protein_id": "XP_011534017.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 366,
"cds_start": 706,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.706G>T",
"hgvs_p": "p.Val236Leu",
"transcript": "XM_011535716.4",
"protein_id": "XP_011534018.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 366,
"cds_start": 706,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.706G>T",
"hgvs_p": "p.Val236Leu",
"transcript": "XM_011535717.4",
"protein_id": "XP_011534019.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 366,
"cds_start": 706,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 5752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "n.834G>T",
"hgvs_p": null,
"transcript": "ENST00000602432.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"dbsnp": "rs756735401",
"frequency_reference_population": 0.0000013681032,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"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": 0.8546218872070312,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.438,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9053,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000402938.4",
"gene_symbol": "GABRR2",
"hgnc_id": 4091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1003G>T",
"hgvs_p": "p.Val335Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}