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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: 6-138844430-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138844430&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138844430,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000541398.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu",
"transcript": "NM_001077706.3",
"protein_id": "NP_001071174.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 904,
"cds_start": 614,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": "ENST00000541398.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu",
"transcript": "ENST00000541398.7",
"protein_id": "ENSP00000442307.2",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 904,
"cds_start": 614,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": "NM_001077706.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu",
"transcript": "NM_001195037.2",
"protein_id": "NP_001181966.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 904,
"cds_start": 614,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu",
"transcript": "ENST00000367682.6",
"protein_id": "ENSP00000356655.2",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 904,
"cds_start": 614,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu",
"transcript": "XM_006715472.4",
"protein_id": "XP_006715535.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 946,
"cds_start": 614,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu",
"transcript": "XM_011535795.3",
"protein_id": "XP_011534097.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 946,
"cds_start": 614,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu",
"transcript": "XM_017010828.2",
"protein_id": "XP_016866317.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 946,
"cds_start": 614,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu",
"transcript": "XM_017010829.2",
"protein_id": "XP_016866318.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 915,
"cds_start": 614,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 4540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Arg136Leu",
"transcript": "XM_011535797.3",
"protein_id": "XP_011534099.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 877,
"cds_start": 407,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu",
"transcript": "XM_017010830.2",
"protein_id": "XP_016866319.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 603,
"cds_start": 614,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"dbsnp": "rs587778245",
"frequency_reference_population": 0.0000024789813,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205276,
"gnomad_genomes_af": 0.00000657376,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7146739363670349,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5347,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.262,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000541398.7",
"gene_symbol": "ECT2L",
"hgnc_id": 21118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.614G>T",
"hgvs_p": "p.Arg205Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}