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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: 19-55165904-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55165904&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55165904,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000524407.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Pro",
"transcript": "NM_001256715.2",
"protein_id": "NP_001243644.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 541,
"cds_start": 182,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": "ENST00000524407.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Pro",
"transcript": "ENST00000524407.7",
"protein_id": "ENSP00000432046.3",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 541,
"cds_start": 182,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": "NM_001256715.2",
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.182T>C",
"hgvs_p": null,
"transcript": "ENST00000528412.5",
"protein_id": "ENSP00000433826.2",
"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": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.-57T>C",
"hgvs_p": null,
"transcript": "ENST00000455045.5",
"protein_id": "ENSP00000394343.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Pro",
"transcript": "NM_001256714.1",
"protein_id": "NP_001243643.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 608,
"cds_start": 386,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Pro",
"transcript": "ENST00000527223.6",
"protein_id": "ENSP00000436975.2",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 608,
"cds_start": 386,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.323T>C",
"hgvs_p": "p.Leu108Pro",
"transcript": "NM_178837.4",
"protein_id": "NP_849159.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 588,
"cds_start": 323,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.323T>C",
"hgvs_p": "p.Leu108Pro",
"transcript": "ENST00000391720.8",
"protein_id": "ENSP00000375600.5",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 588,
"cds_start": 323,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Pro",
"transcript": "ENST00000526003.5",
"protein_id": "ENSP00000473009.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 159,
"cds_start": 182,
"cds_end": null,
"cds_length": 480,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Leu43Pro",
"transcript": "ENST00000534170.5",
"protein_id": "ENSP00000432360.2",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 111,
"cds_start": 128,
"cds_end": null,
"cds_length": 337,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Leu43Pro",
"transcript": "ENST00000532817.5",
"protein_id": "ENSP00000432838.2",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 104,
"cds_start": 128,
"cds_end": null,
"cds_length": 317,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 570,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.460T>C",
"hgvs_p": null,
"transcript": "ENST00000528476.1",
"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": 547,
"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": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.182T>C",
"hgvs_p": null,
"transcript": "ENST00000534214.1",
"protein_id": "ENSP00000433247.2",
"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": 485,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.442A>G",
"hgvs_p": null,
"transcript": "XR_007067344.1",
"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": 1442,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.649A>G",
"hgvs_p": null,
"transcript": "XR_007067345.1",
"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": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.-57T>C",
"hgvs_p": null,
"transcript": "NM_001256716.2",
"protein_id": "NP_001243645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.1186+3103A>G",
"hgvs_p": null,
"transcript": "ENST00000591665.1",
"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": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.354+4690A>G",
"hgvs_p": null,
"transcript": "ENST00000805275.1",
"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": 646,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.*85T>C",
"hgvs_p": null,
"transcript": "ENST00000586877.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"dbsnp": "rs387907151",
"frequency_reference_population": 6.840488e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84049e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8878679871559143,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.424,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9311,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.129,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000524407.7",
"gene_symbol": "DNAAF3",
"hgnc_id": 30492,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Leu61Pro"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_007067344.1",
"gene_symbol": "DNAAF3-AS1",
"hgnc_id": 55292,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.442A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Primary ciliary dyskinesia 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Primary ciliary dyskinesia 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}