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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: 6-39026579-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=39026579&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 39026579,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000327475.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.13748G>T",
"hgvs_p": "p.Arg4583Leu",
"transcript": "NM_001206927.2",
"protein_id": "NP_001193856.1",
"transcript_support_level": null,
"aa_start": 4583,
"aa_end": null,
"aa_length": 4707,
"cds_start": 13748,
"cds_end": null,
"cds_length": 14124,
"cdna_start": 13887,
"cdna_end": null,
"cdna_length": 14663,
"mane_select": "ENST00000327475.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.13748G>T",
"hgvs_p": "p.Arg4583Leu",
"transcript": "ENST00000327475.11",
"protein_id": "ENSP00000333363.7",
"transcript_support_level": 5,
"aa_start": 4583,
"aa_end": null,
"aa_length": 4707,
"cds_start": 13748,
"cds_end": null,
"cds_length": 14124,
"cdna_start": 13887,
"cdna_end": null,
"cdna_length": 14663,
"mane_select": "NM_001206927.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.13097G>T",
"hgvs_p": "p.Arg4366Leu",
"transcript": "NM_001371.4",
"protein_id": "NP_001362.2",
"transcript_support_level": null,
"aa_start": 4366,
"aa_end": null,
"aa_length": 4490,
"cds_start": 13097,
"cds_end": null,
"cds_length": 13473,
"cdna_start": 13802,
"cdna_end": null,
"cdna_length": 14578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.13097G>T",
"hgvs_p": "p.Arg4366Leu",
"transcript": "ENST00000359357.7",
"protein_id": "ENSP00000352312.3",
"transcript_support_level": 2,
"aa_start": 4366,
"aa_end": null,
"aa_length": 4490,
"cds_start": 13097,
"cds_end": null,
"cds_length": 13473,
"cdna_start": 13351,
"cdna_end": null,
"cdna_length": 13864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.13685G>T",
"hgvs_p": "p.Arg4562Leu",
"transcript": "XM_011514318.3",
"protein_id": "XP_011512620.1",
"transcript_support_level": null,
"aa_start": 4562,
"aa_end": null,
"aa_length": 4686,
"cds_start": 13685,
"cds_end": null,
"cds_length": 14061,
"cdna_start": 13824,
"cdna_end": null,
"cdna_length": 14600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.13640G>T",
"hgvs_p": "p.Arg4547Leu",
"transcript": "XM_011514319.3",
"protein_id": "XP_011512621.1",
"transcript_support_level": null,
"aa_start": 4547,
"aa_end": null,
"aa_length": 4671,
"cds_start": 13640,
"cds_end": null,
"cds_length": 14016,
"cdna_start": 13779,
"cdna_end": null,
"cdna_length": 14555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.13511G>T",
"hgvs_p": "p.Arg4504Leu",
"transcript": "XM_011514320.3",
"protein_id": "XP_011512622.1",
"transcript_support_level": null,
"aa_start": 4504,
"aa_end": null,
"aa_length": 4628,
"cds_start": 13511,
"cds_end": null,
"cds_length": 13887,
"cdna_start": 13650,
"cdna_end": null,
"cdna_length": 14426,
"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": 94,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "n.14207G>T",
"hgvs_p": null,
"transcript": "XR_926078.3",
"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": 14253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"dbsnp": "rs139227429",
"frequency_reference_population": 0.00009360939,
"hom_count_reference_population": 0,
"allele_count_reference_population": 151,
"gnomad_exomes_af": 0.0000910389,
"gnomad_genomes_af": 0.000118287,
"gnomad_exomes_ac": 133,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10725012421607971,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.586,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.978,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.808,
"phylop100way_prediction": "Pathogenic",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000327475.11",
"gene_symbol": "DNAH8",
"hgnc_id": 2952,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13748G>T",
"hgvs_p": "p.Arg4583Leu"
}
],
"clinvar_disease": "DNAH8-related disorder,Primary ciliary dyskinesia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Primary ciliary dyskinesia|DNAH8-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}