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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: 17-78426518-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78426518&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78426518,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000389840.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.12854G>A",
"hgvs_p": "p.Arg4285Gln",
"transcript": "NM_173628.4",
"protein_id": "NP_775899.3",
"transcript_support_level": null,
"aa_start": 4285,
"aa_end": null,
"aa_length": 4462,
"cds_start": 12854,
"cds_end": null,
"cds_length": 13389,
"cdna_start": 12981,
"cdna_end": null,
"cdna_length": 13725,
"mane_select": "ENST00000389840.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.12854G>A",
"hgvs_p": "p.Arg4285Gln",
"transcript": "ENST00000389840.7",
"protein_id": "ENSP00000374490.6",
"transcript_support_level": 5,
"aa_start": 4285,
"aa_end": null,
"aa_length": 4462,
"cds_start": 12854,
"cds_end": null,
"cds_length": 13389,
"cdna_start": 12981,
"cdna_end": null,
"cdna_length": 13725,
"mane_select": "NM_173628.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.12866G>A",
"hgvs_p": "p.Arg4289Gln",
"transcript": "XM_011525416.3",
"protein_id": "XP_011523718.1",
"transcript_support_level": null,
"aa_start": 4289,
"aa_end": null,
"aa_length": 4466,
"cds_start": 12866,
"cds_end": null,
"cds_length": 13401,
"cdna_start": 12993,
"cdna_end": null,
"cdna_length": 13737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.12722G>A",
"hgvs_p": "p.Arg4241Gln",
"transcript": "XM_024451013.2",
"protein_id": "XP_024306781.1",
"transcript_support_level": null,
"aa_start": 4241,
"aa_end": null,
"aa_length": 4418,
"cds_start": 12722,
"cds_end": null,
"cds_length": 13257,
"cdna_start": 12849,
"cdna_end": null,
"cdna_length": 13593,
"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": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "n.6015G>A",
"hgvs_p": null,
"transcript": "ENST00000586052.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 6551,
"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": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "n.386G>A",
"hgvs_p": null,
"transcript": "ENST00000586850.1",
"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": 417,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "n.2528G>A",
"hgvs_p": null,
"transcript": "ENST00000590227.5",
"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": 3269,
"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": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "n.4454G>A",
"hgvs_p": null,
"transcript": "ENST00000591369.5",
"protein_id": "ENSP00000466150.1",
"transcript_support_level": 5,
"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": 5220,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "n.203G>A",
"hgvs_p": null,
"transcript": "ENST00000591647.1",
"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": 312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"dbsnp": "rs35973257",
"frequency_reference_population": 0.02787897,
"hom_count_reference_population": 748,
"allele_count_reference_population": 44984,
"gnomad_exomes_af": 0.0285474,
"gnomad_genomes_af": 0.0214671,
"gnomad_exomes_ac": 41714,
"gnomad_genomes_ac": 3270,
"gnomad_exomes_homalt": 714,
"gnomad_genomes_homalt": 34,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007018923759460449,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.1535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.117,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000389840.7",
"gene_symbol": "DNAH17",
"hgnc_id": 2946,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.12854G>A",
"hgvs_p": "p.Arg4285Gln"
}
],
"clinvar_disease": "DNAH17-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided|DNAH17-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}