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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: 10-70758253-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70758253&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 70758253,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000373207.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.3146A>G",
"hgvs_p": "p.Glu1049Gly",
"transcript": "NM_080722.4",
"protein_id": "NP_542453.2",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3443,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": "ENST00000373207.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.3146A>G",
"hgvs_p": "p.Glu1049Gly",
"transcript": "ENST00000373207.2",
"protein_id": "ENSP00000362303.1",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3443,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": "NM_080722.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.3155A>G",
"hgvs_p": "p.Glu1052Gly",
"transcript": "NM_139155.3",
"protein_id": "NP_631894.2",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3452,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.3155A>G",
"hgvs_p": "p.Glu1052Gly",
"transcript": "ENST00000373208.5",
"protein_id": "ENSP00000362304.1",
"transcript_support_level": 2,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3155,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.2645A>G",
"hgvs_p": "p.Glu882Gly",
"transcript": "XM_011539300.3",
"protein_id": "XP_011537602.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2645,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 2942,
"cdna_end": null,
"cdna_length": 5056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.2219A>G",
"hgvs_p": "p.Glu740Gly",
"transcript": "XM_011539301.2",
"protein_id": "XP_011537603.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 914,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.2219A>G",
"hgvs_p": "p.Glu740Gly",
"transcript": "XM_011539302.2",
"protein_id": "XP_011537604.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 914,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.1715A>G",
"hgvs_p": "p.Glu572Gly",
"transcript": "XM_011539309.2",
"protein_id": "XP_011537611.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 746,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.*308A>G",
"hgvs_p": null,
"transcript": "XM_011539308.3",
"protein_id": "XP_011537610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"dbsnp": "rs4747096",
"frequency_reference_population": 0.18010466,
"hom_count_reference_population": 27609,
"allele_count_reference_population": 290641,
"gnomad_exomes_af": 0.179277,
"gnomad_genomes_af": 0.188053,
"gnomad_exomes_ac": 262019,
"gnomad_genomes_ac": 28622,
"gnomad_exomes_homalt": 24808,
"gnomad_genomes_homalt": 2801,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004669874906539917,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0533,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.265,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000373207.2",
"gene_symbol": "ADAMTS14",
"hgnc_id": 14899,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3146A>G",
"hgvs_p": "p.Glu1049Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}