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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: 10-70672857-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70672857&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 70672857,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_139155.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "NM_080722.4",
"protein_id": "NP_542453.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1223,
"cds_start": 55,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": "ENST00000373207.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080722.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "ENST00000373207.2",
"protein_id": "ENSP00000362303.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 1223,
"cds_start": 55,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": "NM_080722.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373207.2"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "ENST00000886732.1",
"protein_id": "ENSP00000556791.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1237,
"cds_start": 55,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886732.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "NM_139155.3",
"protein_id": "NP_631894.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1226,
"cds_start": 55,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139155.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "ENST00000373208.5",
"protein_id": "ENSP00000362304.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 1226,
"cds_start": 55,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 55,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373208.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "ENST00000955383.1",
"protein_id": "ENSP00000625442.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1216,
"cds_start": 55,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955383.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "ENST00000915987.1",
"protein_id": "ENSP00000586046.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 534,
"cds_start": 55,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915987.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "XM_011539300.3",
"protein_id": "XP_011537602.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1056,
"cds_start": 55,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 5056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539300.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "XM_011539303.3",
"protein_id": "XP_011537605.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 820,
"cds_start": 55,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539303.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "XM_011539306.3",
"protein_id": "XP_011537608.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 791,
"cds_start": 55,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539306.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "XM_011539307.3",
"protein_id": "XP_011537609.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 791,
"cds_start": 55,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539307.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser",
"transcript": "XM_011539308.3",
"protein_id": "XP_011537610.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 791,
"cds_start": 55,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539308.3"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"hgvs_c": "n.352T>A",
"hgvs_p": null,
"transcript": "XR_001747025.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001747025.2"
}
],
"gene_symbol": "ADAMTS14",
"gene_hgnc_id": 14899,
"dbsnp": "rs777117857",
"frequency_reference_population": 0.00046950538,
"hom_count_reference_population": 0,
"allele_count_reference_population": 707,
"gnomad_exomes_af": 0.000484601,
"gnomad_genomes_af": 0.0003352,
"gnomad_exomes_ac": 656,
"gnomad_genomes_ac": 51,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1059248149394989,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.1071,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.133,
"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": -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_139155.3",
"gene_symbol": "ADAMTS14",
"hgnc_id": 14899,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.55T>A",
"hgvs_p": "p.Cys19Ser"
}
],
"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
}