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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: 21-42127763-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42127763&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 42127763,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173568.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.3622G>T",
"hgvs_p": "p.Asp1208Tyr",
"transcript": "NM_001004416.3",
"protein_id": "NP_001004416.3",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3622,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000408910.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004416.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.3622G>T",
"hgvs_p": "p.Asp1208Tyr",
"transcript": "ENST00000408910.7",
"protein_id": "ENSP00000386147.2",
"transcript_support_level": 1,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3622,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001004416.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408910.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.4006G>T",
"hgvs_p": "p.Asp1336Tyr",
"transcript": "ENST00000408989.6",
"protein_id": "ENSP00000386126.2",
"transcript_support_level": 1,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1446,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408989.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.3790G>T",
"hgvs_p": "p.Asp1264Tyr",
"transcript": "ENST00000400427.5",
"protein_id": "ENSP00000383279.1",
"transcript_support_level": 1,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400427.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.3406G>T",
"hgvs_p": "p.Asp1136Tyr",
"transcript": "ENST00000400424.6",
"protein_id": "ENSP00000383276.1",
"transcript_support_level": 1,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400424.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "n.86G>T",
"hgvs_p": null,
"transcript": "ENST00000484712.1",
"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": "pseudogene",
"feature": "ENST00000484712.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.4006G>T",
"hgvs_p": "p.Asp1336Tyr",
"transcript": "NM_173568.4",
"protein_id": "NP_775839.4",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1446,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173568.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.3790G>T",
"hgvs_p": "p.Asp1264Tyr",
"transcript": "NM_001199527.3",
"protein_id": "NP_001186456.2",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199527.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.3406G>T",
"hgvs_p": "p.Asp1136Tyr",
"transcript": "NM_001199528.4",
"protein_id": "NP_001186457.3",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199528.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.3694G>T",
"hgvs_p": "p.Asp1232Tyr",
"transcript": "XM_017028507.1",
"protein_id": "XP_016883996.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3694,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028507.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "c.3472G>T",
"hgvs_p": "p.Asp1158Tyr",
"transcript": "XM_011529797.1",
"protein_id": "XP_011528099.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"hgvs_c": "n.1366G>T",
"hgvs_p": null,
"transcript": "ENST00000400423.6",
"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": "pseudogene",
"feature": "ENST00000400423.6"
}
],
"gene_symbol": "UMODL1",
"gene_hgnc_id": 12560,
"dbsnp": "rs220159",
"frequency_reference_population": 6.840666e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84067e-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": 0.21951186656951904,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.2012,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.909,
"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": 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_173568.4",
"gene_symbol": "UMODL1",
"hgnc_id": 12560,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4006G>T",
"hgvs_p": "p.Asp1336Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}