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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: 12-12661644-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=12661644&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 12661644,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006143.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"transcript": "NM_006143.3",
"protein_id": "NP_006134.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 415,
"cds_start": 805,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": "ENST00000651487.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"transcript": "ENST00000651487.1",
"protein_id": "ENSP00000498976.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 415,
"cds_start": 805,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": "NM_006143.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"transcript": "ENST00000332427.6",
"protein_id": "ENSP00000333744.2",
"transcript_support_level": 4,
"aa_start": 269,
"aa_end": null,
"aa_length": 415,
"cds_start": 805,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"transcript": "ENST00000540510.1",
"protein_id": "ENSP00000441832.1",
"transcript_support_level": 2,
"aa_start": 269,
"aa_end": null,
"aa_length": 415,
"cds_start": 805,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "XM_011520623.4",
"protein_id": "XP_011518925.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 434,
"cds_start": 862,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 2602,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "XM_011520624.3",
"protein_id": "XP_011518926.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 434,
"cds_start": 862,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "XM_047428741.1",
"protein_id": "XP_047284697.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 434,
"cds_start": 862,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 6206,
"cdna_end": null,
"cdna_length": 6705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"transcript": "XM_047428742.1",
"protein_id": "XP_047284698.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 415,
"cds_start": 805,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257004",
"gene_hgnc_id": null,
"hgvs_c": "n.465+3680G>A",
"hgvs_p": null,
"transcript": "ENST00000817557.1",
"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": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"dbsnp": "rs751796319",
"frequency_reference_population": 0.0000055782475,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547471,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9084470272064209,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.682,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7941,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.617,
"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": "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": "NM_006143.3",
"gene_symbol": "GPR19",
"hgnc_id": 4473,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000817557.1",
"gene_symbol": "ENSG00000257004",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.465+3680G>A",
"hgvs_p": null
}
],
"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
}