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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: 11-88508877-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=88508877&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 88508877,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000305447.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM5",
"gene_hgnc_id": 4597,
"hgvs_c": "c.3354G>T",
"hgvs_p": "p.Leu1118Leu",
"transcript": "NM_001143831.3",
"protein_id": "NP_001137303.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 3761,
"cdna_end": null,
"cdna_length": 7996,
"mane_select": "ENST00000305447.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM5",
"gene_hgnc_id": 4597,
"hgvs_c": "c.3354G>T",
"hgvs_p": "p.Leu1118Leu",
"transcript": "ENST00000305447.5",
"protein_id": "ENSP00000306138.4",
"transcript_support_level": 1,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 3761,
"cdna_end": null,
"cdna_length": 7996,
"mane_select": "NM_001143831.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM5",
"gene_hgnc_id": 4597,
"hgvs_c": "c.3258G>T",
"hgvs_p": "p.Leu1086Leu",
"transcript": "ENST00000305432.9",
"protein_id": "ENSP00000305905.5",
"transcript_support_level": 1,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3258,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3408,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM5",
"gene_hgnc_id": 4597,
"hgvs_c": "c.3258G>T",
"hgvs_p": "p.Leu1086Leu",
"transcript": "NM_000842.5",
"protein_id": "NP_000833.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3258,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3637,
"cdna_end": null,
"cdna_length": 7872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM5",
"gene_hgnc_id": 4597,
"hgvs_c": "c.3258G>T",
"hgvs_p": "p.Leu1086Leu",
"transcript": "NM_001384268.1",
"protein_id": "NP_001371197.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3258,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3665,
"cdna_end": null,
"cdna_length": 7900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM5",
"gene_hgnc_id": 4597,
"hgvs_c": "c.3258G>T",
"hgvs_p": "p.Leu1086Leu",
"transcript": "ENST00000455756.6",
"protein_id": "ENSP00000405690.2",
"transcript_support_level": 2,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3258,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3626,
"cdna_end": null,
"cdna_length": 7927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM5",
"gene_hgnc_id": 4597,
"hgvs_c": "c.3354G>T",
"hgvs_p": "p.Leu1118Leu",
"transcript": "XM_011542792.2",
"protein_id": "XP_011541094.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 7968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM5-AS1",
"gene_hgnc_id": 40265,
"hgvs_c": "n.4302C>A",
"hgvs_p": null,
"transcript": "ENST00000526448.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM5-AS1",
"gene_hgnc_id": 40265,
"hgvs_c": "n.4302C>A",
"hgvs_p": null,
"transcript": "NR_049724.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRM5",
"gene_hgnc_id": 4597,
"dbsnp": "rs767608328",
"frequency_reference_population": 6.9542284e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.95423e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.19,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000305447.5",
"gene_symbol": "GRM5",
"hgnc_id": 4597,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3354G>T",
"hgvs_p": "p.Leu1118Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_049724.1",
"gene_symbol": "GRM5-AS1",
"hgnc_id": 40265,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.4302C>A",
"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
}