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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: 9-133536800-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133536800&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133536800,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000651351.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Thr30Ala",
"transcript": "NM_014694.4",
"protein_id": "NP_055509.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 951,
"cds_start": 88,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": "ENST00000651351.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Thr30Ala",
"transcript": "ENST00000651351.2",
"protein_id": "ENSP00000498961.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 951,
"cds_start": 88,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": "NM_014694.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Thr139Ala",
"transcript": "ENST00000393061.7",
"protein_id": "ENSP00000376781.3",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 1060,
"cds_start": 415,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Thr30Ala",
"transcript": "ENST00000354484.8",
"protein_id": "ENSP00000346478.4",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 951,
"cds_start": 88,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Thr30Ala",
"transcript": "ENST00000393060.1",
"protein_id": "ENSP00000376780.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 951,
"cds_start": 88,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Thr30Ala",
"transcript": "NM_001145320.2",
"protein_id": "NP_001138792.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 951,
"cds_start": 88,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Thr139Ala",
"transcript": "XM_011519241.3",
"protein_id": "XP_011517543.2",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1021,
"cds_start": 415,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "XM_011519242.4",
"protein_id": "XP_011517544.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 973,
"cds_start": 266,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "XM_005272238.4",
"protein_id": "XP_005272295.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 961,
"cds_start": 266,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Thr30Ala",
"transcript": "XM_005272239.3",
"protein_id": "XP_005272296.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 951,
"cds_start": 88,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTSL2",
"gene_hgnc_id": 14631,
"dbsnp": "rs62637569",
"frequency_reference_population": 0.0021689003,
"hom_count_reference_population": 77,
"allele_count_reference_population": 3501,
"gnomad_exomes_af": 0.00116087,
"gnomad_genomes_af": 0.0118416,
"gnomad_exomes_ac": 1697,
"gnomad_genomes_ac": 1804,
"gnomad_exomes_homalt": 29,
"gnomad_genomes_homalt": 48,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0027523934841156006,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0619,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.076,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000406481669798936,
"dbscsnv_ada_prediction": "Benign",
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000651351.2",
"gene_symbol": "ADAMTSL2",
"hgnc_id": 14631,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Thr30Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}