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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: 16-77289338-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=77289338&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 77289338,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000282849.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS18",
"gene_hgnc_id": 17110,
"hgvs_c": "c.3476G>C",
"hgvs_p": "p.Ser1159Thr",
"transcript": "NM_199355.4",
"protein_id": "NP_955387.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3476,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3815,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "ENST00000282849.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS18",
"gene_hgnc_id": 17110,
"hgvs_c": "c.3476G>C",
"hgvs_p": "p.Ser1159Thr",
"transcript": "ENST00000282849.10",
"protein_id": "ENSP00000282849.5",
"transcript_support_level": 1,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3476,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3815,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "NM_199355.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS18",
"gene_hgnc_id": 17110,
"hgvs_c": "c.2960G>C",
"hgvs_p": "p.Ser987Thr",
"transcript": "NM_001326358.2",
"protein_id": "NP_001313287.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2960,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 3819,
"cdna_end": null,
"cdna_length": 5837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS18",
"gene_hgnc_id": 17110,
"hgvs_c": "c.20G>C",
"hgvs_p": "p.Ser7Thr",
"transcript": "ENST00000562332.1",
"protein_id": "ENSP00000454368.1",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 61,
"cds_start": 20,
"cds_end": null,
"cds_length": 186,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS18",
"gene_hgnc_id": 17110,
"hgvs_c": "c.2747G>C",
"hgvs_p": "p.Ser916Thr",
"transcript": "XM_047433672.1",
"protein_id": "XP_047289628.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 978,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS18",
"gene_hgnc_id": 17110,
"hgvs_c": "c.2240G>C",
"hgvs_p": "p.Ser747Thr",
"transcript": "XM_047433673.1",
"protein_id": "XP_047289629.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 809,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260922",
"gene_hgnc_id": null,
"hgvs_c": "n.136C>G",
"hgvs_p": null,
"transcript": "ENST00000561672.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903727",
"gene_hgnc_id": null,
"hgvs_c": "n.63C>G",
"hgvs_p": null,
"transcript": "XR_007065122.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260922",
"gene_hgnc_id": null,
"hgvs_c": "n.-1C>G",
"hgvs_p": null,
"transcript": "ENST00000648730.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTS18",
"gene_hgnc_id": 17110,
"dbsnp": "rs3743749",
"frequency_reference_population": 0.14652385,
"hom_count_reference_population": 18015,
"allele_count_reference_population": 236476,
"gnomad_exomes_af": 0.145107,
"gnomad_genomes_af": 0.160139,
"gnomad_exomes_ac": 212122,
"gnomad_genomes_ac": 24354,
"gnomad_exomes_homalt": 15963,
"gnomad_genomes_homalt": 2052,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0010043978691101074,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0822,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.165,
"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": "ENST00000282849.10",
"gene_symbol": "ADAMTS18",
"hgnc_id": 17110,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3476G>C",
"hgvs_p": "p.Ser1159Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000561672.1",
"gene_symbol": "ENSG00000260922",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.136C>G",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007065122.1",
"gene_symbol": "LOC124903727",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.63C>G",
"hgvs_p": null
}
],
"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
}