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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: 10-126038332-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=126038332&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 126038332,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003474.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM12",
"gene_hgnc_id": 190,
"hgvs_c": "c.2258G>A",
"hgvs_p": "p.Arg753Gln",
"transcript": "NM_001288973.2",
"protein_id": "NP_001275902.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 906,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000448723.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288973.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM12",
"gene_hgnc_id": 190,
"hgvs_c": "c.2258G>A",
"hgvs_p": "p.Arg753Gln",
"transcript": "ENST00000448723.2",
"protein_id": "ENSP00000391268.2",
"transcript_support_level": 5,
"aa_start": 753,
"aa_end": null,
"aa_length": 906,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001288973.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448723.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM12",
"gene_hgnc_id": 190,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756Gln",
"transcript": "ENST00000368679.8",
"protein_id": "ENSP00000357668.4",
"transcript_support_level": 1,
"aa_start": 756,
"aa_end": null,
"aa_length": 909,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368679.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM12",
"gene_hgnc_id": 190,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756Gln",
"transcript": "NM_003474.6",
"protein_id": "NP_003465.3",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 909,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003474.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM12",
"gene_hgnc_id": 190,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Arg367Gln",
"transcript": "XM_017016706.2",
"protein_id": "XP_016872195.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 520,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016706.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM12",
"gene_hgnc_id": 190,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "XM_024448210.1",
"protein_id": "XP_024303978.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 463,
"cds_start": 929,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448210.1"
}
],
"gene_symbol": "ADAM12",
"gene_hgnc_id": 190,
"dbsnp": "rs774398581",
"frequency_reference_population": 0.000013117736,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000138052,
"gnomad_genomes_af": 0.0000065722,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1602460741996765,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0822,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.613,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003474.6",
"gene_symbol": "ADAM12",
"hgnc_id": 190,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756Gln"
}
],
"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
}