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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: 4-73064835-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73064835&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73064835,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000507544.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Pro222Pro",
"transcript": "NM_001297732.2",
"protein_id": "NP_001284661.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 334,
"cds_start": 666,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 6824,
"mane_select": "ENST00000507544.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Pro222Pro",
"transcript": "ENST00000507544.3",
"protein_id": "ENSP00000425261.3",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 334,
"cds_start": 666,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 6824,
"mane_select": "NM_001297732.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Pro221Pro",
"transcript": "ENST00000295890.8",
"protein_id": "ENSP00000295890.4",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 333,
"cds_start": 663,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 6846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "n.*172C>T",
"hgvs_p": null,
"transcript": "ENST00000449739.6",
"protein_id": "ENSP00000394583.2",
"transcript_support_level": 1,
"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": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "n.*283C>T",
"hgvs_p": null,
"transcript": "ENST00000510031.1",
"protein_id": "ENSP00000424978.1",
"transcript_support_level": 1,
"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": 1083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "n.*172C>T",
"hgvs_p": null,
"transcript": "ENST00000449739.6",
"protein_id": "ENSP00000394583.2",
"transcript_support_level": 1,
"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": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "n.*283C>T",
"hgvs_p": null,
"transcript": "ENST00000510031.1",
"protein_id": "ENSP00000424978.1",
"transcript_support_level": 1,
"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": 1083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Pro224Pro",
"transcript": "NM_001300729.1",
"protein_id": "NP_001287658.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 336,
"cds_start": 672,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 4429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Pro221Pro",
"transcript": "NM_173827.4",
"protein_id": "NP_776188.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 333,
"cds_start": 663,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 6821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Pro70Pro",
"transcript": "NM_001297733.2",
"protein_id": "NP_001284662.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 182,
"cds_start": 210,
"cds_end": null,
"cds_length": 549,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 6825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Pro222Pro",
"transcript": "XM_005265680.6",
"protein_id": "XP_005265737.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 320,
"cds_start": 666,
"cds_end": null,
"cds_length": 963,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 6828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Pro221Pro",
"transcript": "XM_017008045.3",
"protein_id": "XP_016863534.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 319,
"cds_start": 663,
"cds_end": null,
"cds_length": 960,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 6825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COX18",
"gene_hgnc_id": 26801,
"dbsnp": "rs3762883",
"frequency_reference_population": 0.42122516,
"hom_count_reference_population": 146648,
"allele_count_reference_population": 679282,
"gnomad_exomes_af": 0.427368,
"gnomad_genomes_af": 0.362221,
"gnomad_exomes_ac": 624207,
"gnomad_genomes_ac": 55075,
"gnomad_exomes_homalt": 136086,
"gnomad_genomes_homalt": 10562,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.082,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000507544.3",
"gene_symbol": "COX18",
"hgnc_id": 26801,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Pro222Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}