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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: 21-42076196-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42076196&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 42076196,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001004416.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Val90Met",
"transcript": "NM_001004416.3",
"protein_id": "NP_001004416.3",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1318,
"cds_start": 268,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": "ENST00000408910.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Val90Met",
"transcript": "ENST00000408910.7",
"protein_id": "ENSP00000386147.2",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1318,
"cds_start": 268,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": "NM_001004416.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Val90Met",
"transcript": "ENST00000408989.6",
"protein_id": "ENSP00000386126.2",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1446,
"cds_start": 268,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 5262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Val18Met",
"transcript": "ENST00000400427.5",
"protein_id": "ENSP00000383279.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1374,
"cds_start": 52,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Val18Met",
"transcript": "ENST00000400424.6",
"protein_id": "ENSP00000383276.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1246,
"cds_start": 52,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Val90Met",
"transcript": "NM_173568.4",
"protein_id": "NP_775839.4",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1446,
"cds_start": 268,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Val18Met",
"transcript": "NM_001199527.3",
"protein_id": "NP_001186456.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1374,
"cds_start": 52,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 5525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Val18Met",
"transcript": "NM_001199528.4",
"protein_id": "NP_001186457.3",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1246,
"cds_start": 52,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"dbsnp": "rs201393334",
"frequency_reference_population": 0.00013876396,
"hom_count_reference_population": 0,
"allele_count_reference_population": 224,
"gnomad_exomes_af": 0.000136125,
"gnomad_genomes_af": 0.000164081,
"gnomad_exomes_ac": 199,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11079064011573792,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.1586,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.537,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001004416.3",
"gene_symbol": "UMODL1",
"hgnc_id": 12560,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Val90Met"
}
],
"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
}