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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: 19-41999293-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41999293&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41999293,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002088.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "c.2521G>C",
"hgvs_p": "p.Val841Leu",
"transcript": "NM_002088.5",
"protein_id": "NP_002079.3",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 980,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000593562.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002088.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "c.2521G>C",
"hgvs_p": "p.Val841Leu",
"transcript": "ENST00000593562.6",
"protein_id": "ENSP00000470251.1",
"transcript_support_level": 5,
"aa_start": 841,
"aa_end": null,
"aa_length": 980,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002088.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593562.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "c.2521G>C",
"hgvs_p": "p.Val841Leu",
"transcript": "ENST00000262895.7",
"protein_id": "ENSP00000262895.2",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 980,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262895.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "n.1398G>C",
"hgvs_p": null,
"transcript": "ENST00000454993.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000454993.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "c.2560G>C",
"hgvs_p": "p.Val854Leu",
"transcript": "ENST00000933564.1",
"protein_id": "ENSP00000603623.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 993,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933564.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "c.2536G>C",
"hgvs_p": "p.Val846Leu",
"transcript": "ENST00000933563.1",
"protein_id": "ENSP00000603622.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 985,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933563.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "c.2407G>C",
"hgvs_p": "p.Val803Leu",
"transcript": "ENST00000933561.1",
"protein_id": "ENSP00000603620.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 942,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933561.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "c.1744G>C",
"hgvs_p": "p.Val582Leu",
"transcript": "ENST00000933562.1",
"protein_id": "ENSP00000603621.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 721,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933562.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "c.2524G>C",
"hgvs_p": "p.Val842Leu",
"transcript": "XM_011526862.3",
"protein_id": "XP_011525164.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 981,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526862.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "c.2515-9G>C",
"hgvs_p": null,
"transcript": "ENST00000933560.1",
"protein_id": "ENSP00000603619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": null,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"hgvs_c": "n.339G>C",
"hgvs_p": null,
"transcript": "ENST00000602210.1",
"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": "ENST00000602210.1"
}
],
"gene_symbol": "GRIK5",
"gene_hgnc_id": 4583,
"dbsnp": "rs963139581",
"frequency_reference_population": 7.3215017e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.3215e-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": 0.10233399271965027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.2928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002088.5",
"gene_symbol": "GRIK5",
"hgnc_id": 4583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2521G>C",
"hgvs_p": "p.Val841Leu"
}
],
"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
}