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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: 16-84170019-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84170019&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84170019,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_178452.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Glu397Asp",
"transcript": "NM_178452.6",
"protein_id": "NP_848547.4",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 725,
"cds_start": 1191,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": "ENST00000378553.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Glu397Asp",
"transcript": "ENST00000378553.10",
"protein_id": "ENSP00000367815.5",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 725,
"cds_start": 1191,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": "NM_178452.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.483G>C",
"hgvs_p": "p.Glu161Asp",
"transcript": "NM_001318756.1",
"protein_id": "NP_001305685.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 489,
"cds_start": 483,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1239G>C",
"hgvs_p": "p.Glu413Asp",
"transcript": "XM_011522853.4",
"protein_id": "XP_011521155.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 772,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Glu397Asp",
"transcript": "XM_017022918.3",
"protein_id": "XP_016878407.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 756,
"cds_start": 1191,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1239G>C",
"hgvs_p": "p.Glu413Asp",
"transcript": "XM_011522854.4",
"protein_id": "XP_011521156.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 743,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1239G>C",
"hgvs_p": "p.Glu413Asp",
"transcript": "XM_011522855.4",
"protein_id": "XP_011521157.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 741,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Glu397Asp",
"transcript": "XM_006721129.4",
"protein_id": "XP_006721192.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 727,
"cds_start": 1191,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.978G>C",
"hgvs_p": "p.Glu326Asp",
"transcript": "XM_017022919.2",
"protein_id": "XP_016878408.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 685,
"cds_start": 978,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1239G>C",
"hgvs_p": "p.Glu413Asp",
"transcript": "XM_047433589.1",
"protein_id": "XP_047289545.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 664,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1239G>C",
"hgvs_p": "p.Glu413Asp",
"transcript": "XM_047433590.1",
"protein_id": "XP_047289546.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 662,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1239G>C",
"hgvs_p": "p.Glu413Asp",
"transcript": "XM_011522857.4",
"protein_id": "XP_011521159.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 643,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1239G>C",
"hgvs_p": "p.Glu413Asp",
"transcript": "XM_011522858.4",
"protein_id": "XP_011521160.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 641,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.483G>C",
"hgvs_p": "p.Glu161Asp",
"transcript": "XM_017022920.3",
"protein_id": "XP_016878409.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 520,
"cds_start": 483,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1829,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.1191G>C",
"hgvs_p": null,
"transcript": "ENST00000563093.5",
"protein_id": "ENSP00000457373.1",
"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": 1766,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.868G>C",
"hgvs_p": null,
"transcript": "ENST00000563818.5",
"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": 1931,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.1345G>C",
"hgvs_p": null,
"transcript": "ENST00000570298.5",
"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": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.*43G>C",
"hgvs_p": null,
"transcript": "ENST00000567666.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"dbsnp": "rs757727188",
"frequency_reference_population": 0.000013000182,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000130002,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05811616778373718,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": 0.1166,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.181,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_178452.6",
"gene_symbol": "DNAAF1",
"hgnc_id": 30539,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1191G>C",
"hgvs_p": "p.Glu397Asp"
}
],
"clinvar_disease": "Primary ciliary dyskinesia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Primary ciliary dyskinesia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}