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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: 19-33094188-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33094188&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 33094188,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018025.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH1",
"gene_hgnc_id": 24658,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "NM_018025.3",
"protein_id": "NP_060495.2",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 931,
"cds_start": 472,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000170564.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018025.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH1",
"gene_hgnc_id": 24658,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "ENST00000170564.7",
"protein_id": "ENSP00000170564.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 931,
"cds_start": 472,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018025.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000170564.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH1",
"gene_hgnc_id": 24658,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "ENST00000939189.1",
"protein_id": "ENSP00000609248.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 953,
"cds_start": 472,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939189.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH1",
"gene_hgnc_id": 24658,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "ENST00000880979.1",
"protein_id": "ENSP00000551038.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 895,
"cds_start": 472,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880979.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH1",
"gene_hgnc_id": 24658,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "ENST00000880980.1",
"protein_id": "ENSP00000551039.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 857,
"cds_start": 472,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880980.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH1",
"gene_hgnc_id": 24658,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "XM_006723255.5",
"protein_id": "XP_006723318.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 622,
"cds_start": 472,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723255.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH1",
"gene_hgnc_id": 24658,
"hgvs_c": "n.485G>A",
"hgvs_p": null,
"transcript": "NR_135270.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_135270.2"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GPATCH1",
"gene_hgnc_id": 24658,
"hgvs_c": "n.295-1574G>A",
"hgvs_p": null,
"transcript": "ENST00000592165.1",
"protein_id": "ENSP00000467632.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000592165.1"
}
],
"gene_symbol": "GPATCH1",
"gene_hgnc_id": 24658,
"dbsnp": "rs767665955",
"frequency_reference_population": 0.000022557155,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000221641,
"gnomad_genomes_af": 0.0000262867,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3307877779006958,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.2693,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.213,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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_018025.3",
"gene_symbol": "GPATCH1",
"hgnc_id": 24658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys"
}
],
"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
}