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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: 6-138881000-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138881000&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138881000,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000541398.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.1709T>C",
"hgvs_p": "p.Val570Ala",
"transcript": "NM_001077706.3",
"protein_id": "NP_001071174.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 904,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": "ENST00000541398.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.1709T>C",
"hgvs_p": "p.Val570Ala",
"transcript": "ENST00000541398.7",
"protein_id": "ENSP00000442307.2",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 904,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": "NM_001077706.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.1709T>C",
"hgvs_p": "p.Val570Ala",
"transcript": "NM_001195037.2",
"protein_id": "NP_001181966.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 904,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.1709T>C",
"hgvs_p": "p.Val570Ala",
"transcript": "ENST00000367682.6",
"protein_id": "ENSP00000356655.2",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 904,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.1835T>C",
"hgvs_p": "p.Val612Ala",
"transcript": "XM_006715472.4",
"protein_id": "XP_006715535.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 946,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.1835T>C",
"hgvs_p": "p.Val612Ala",
"transcript": "XM_011535795.3",
"protein_id": "XP_011534097.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 946,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.1835T>C",
"hgvs_p": "p.Val612Ala",
"transcript": "XM_017010828.2",
"protein_id": "XP_016866317.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 946,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.1742T>C",
"hgvs_p": "p.Val581Ala",
"transcript": "XM_017010829.2",
"protein_id": "XP_016866318.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 915,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 4540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"hgvs_c": "c.1628T>C",
"hgvs_p": "p.Val543Ala",
"transcript": "XM_011535797.3",
"protein_id": "XP_011534099.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 877,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ECT2L",
"gene_hgnc_id": 21118,
"dbsnp": "rs138935097",
"frequency_reference_population": 0.006964969,
"hom_count_reference_population": 53,
"allele_count_reference_population": 11241,
"gnomad_exomes_af": 0.00718488,
"gnomad_genomes_af": 0.00485162,
"gnomad_exomes_ac": 10503,
"gnomad_genomes_ac": 738,
"gnomad_exomes_homalt": 47,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004579871892929077,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.1382,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.513,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000541398.7",
"gene_symbol": "ECT2L",
"hgnc_id": 21118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1709T>C",
"hgvs_p": "p.Val570Ala"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1 O:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}