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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: 17-44902391-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44902391&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44902391,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000417826.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF19",
"gene_hgnc_id": 32700,
"hgvs_c": "c.303G>A",
"hgvs_p": "p.Thr101Thr",
"transcript": "NM_213607.3",
"protein_id": "NP_998772.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 242,
"cds_start": 303,
"cds_end": null,
"cds_length": 729,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": "ENST00000417826.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC103",
"gene_hgnc_id": 32700,
"hgvs_c": "c.303G>A",
"hgvs_p": "p.Thr101Thr",
"transcript": "ENST00000417826.3",
"protein_id": "ENSP00000391692.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 242,
"cds_start": 303,
"cds_end": null,
"cds_length": 729,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": "NM_213607.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF19",
"gene_hgnc_id": 32700,
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Val103Ile",
"transcript": "NM_001258399.2",
"protein_id": "NP_001245328.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 104,
"cds_start": 307,
"cds_end": null,
"cds_length": 315,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF19",
"gene_hgnc_id": 32700,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Val102Ile",
"transcript": "NM_001258398.3",
"protein_id": "NP_001245327.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 103,
"cds_start": 304,
"cds_end": null,
"cds_length": 312,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF19",
"gene_hgnc_id": 32700,
"hgvs_c": "c.303G>A",
"hgvs_p": "p.Thr101Thr",
"transcript": "NM_001258395.2",
"protein_id": "NP_001245324.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 242,
"cds_start": 303,
"cds_end": null,
"cds_length": 729,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF19",
"gene_hgnc_id": 32700,
"hgvs_c": "c.303G>A",
"hgvs_p": "p.Thr101Thr",
"transcript": "NM_001258396.2",
"protein_id": "NP_001245325.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 242,
"cds_start": 303,
"cds_end": null,
"cds_length": 729,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC103",
"gene_hgnc_id": 32700,
"hgvs_c": "c.303G>A",
"hgvs_p": "p.Thr101Thr",
"transcript": "ENST00000410006.6",
"protein_id": "ENSP00000387252.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 242,
"cds_start": 303,
"cds_end": null,
"cds_length": 729,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC103",
"gene_hgnc_id": 32700,
"hgvs_c": "c.303G>A",
"hgvs_p": "p.Thr101Thr",
"transcript": "ENST00000357776.6",
"protein_id": "ENSP00000350420.2",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 236,
"cds_start": 303,
"cds_end": null,
"cds_length": 712,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF19",
"gene_hgnc_id": 32700,
"hgvs_c": "c.*53G>A",
"hgvs_p": null,
"transcript": "NM_001258397.3",
"protein_id": "NP_001245326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC103",
"gene_hgnc_id": 32700,
"hgvs_c": "c.*53G>A",
"hgvs_p": null,
"transcript": "ENST00000410027.5",
"protein_id": "ENSP00000386640.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC103",
"gene_hgnc_id": 32700,
"dbsnp": "rs200964903",
"frequency_reference_population": 0.000014868065,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000123129,
"gnomad_genomes_af": 0.0000393918,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.226,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000417826.3",
"gene_symbol": "CCDC103",
"hgnc_id": 32700,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.303G>A",
"hgvs_p": "p.Thr101Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_001258399.2",
"gene_symbol": "DNAAF19",
"hgnc_id": 32700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Val103Ile"
}
],
"clinvar_disease": "Primary ciliary dyskinesia,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|Primary ciliary dyskinesia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}