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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: 6-39026621-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=39026621&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAH8",
"hgnc_id": 2952,
"hgvs_c": "c.13790A>C",
"hgvs_p": "p.Asn4597Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001206927.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3668,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7343165874481201,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4707,
"aa_ref": "N",
"aa_start": 4597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14663,
"cdna_start": 13929,
"cds_end": null,
"cds_length": 14124,
"cds_start": 13790,
"consequences": [
"missense_variant"
],
"exon_count": 93,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "NM_001206927.2",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.13790A>C",
"hgvs_p": "p.Asn4597Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000327475.11",
"protein_coding": true,
"protein_id": "NP_001193856.1",
"strand": true,
"transcript": "NM_001206927.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4707,
"aa_ref": "N",
"aa_start": 4597,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14663,
"cdna_start": 13929,
"cds_end": null,
"cds_length": 14124,
"cds_start": 13790,
"consequences": [
"missense_variant"
],
"exon_count": 93,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "ENST00000327475.11",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.13790A>C",
"hgvs_p": "p.Asn4597Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001206927.2",
"protein_coding": true,
"protein_id": "ENSP00000333363.7",
"strand": true,
"transcript": "ENST00000327475.11",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4490,
"aa_ref": "N",
"aa_start": 4380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14578,
"cdna_start": 13844,
"cds_end": null,
"cds_length": 13473,
"cds_start": 13139,
"consequences": [
"missense_variant"
],
"exon_count": 92,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "NM_001371.4",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.13139A>C",
"hgvs_p": "p.Asn4380Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362.2",
"strand": true,
"transcript": "NM_001371.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4490,
"aa_ref": "N",
"aa_start": 4380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13864,
"cdna_start": 13393,
"cds_end": null,
"cds_length": 13473,
"cds_start": 13139,
"consequences": [
"missense_variant"
],
"exon_count": 91,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000359357.7",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.13139A>C",
"hgvs_p": "p.Asn4380Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352312.3",
"strand": true,
"transcript": "ENST00000359357.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4686,
"aa_ref": "N",
"aa_start": 4576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14600,
"cdna_start": 13866,
"cds_end": null,
"cds_length": 14061,
"cds_start": 13727,
"consequences": [
"missense_variant"
],
"exon_count": 92,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_011514318.3",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.13727A>C",
"hgvs_p": "p.Asn4576Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512620.1",
"strand": true,
"transcript": "XM_011514318.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4671,
"aa_ref": "N",
"aa_start": 4561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14555,
"cdna_start": 13821,
"cds_end": null,
"cds_length": 14016,
"cds_start": 13682,
"consequences": [
"missense_variant"
],
"exon_count": 92,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_011514319.3",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.13682A>C",
"hgvs_p": "p.Asn4561Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512621.1",
"strand": true,
"transcript": "XM_011514319.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4628,
"aa_ref": "N",
"aa_start": 4518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14426,
"cdna_start": 13692,
"cds_end": null,
"cds_length": 13887,
"cds_start": 13553,
"consequences": [
"missense_variant"
],
"exon_count": 91,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_011514320.3",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.13553A>C",
"hgvs_p": "p.Asn4518Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512622.1",
"strand": true,
"transcript": "XM_011514320.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 14253,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 94,
"exon_rank": 94,
"exon_rank_end": null,
"feature": "XR_926078.3",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "n.14249A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_926078.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs774818998",
"effect": "missense_variant",
"frequency_reference_population": 6.842866e-7,
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84287e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.002,
"pos": 39026621,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.313,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001206927.2"
}
]
}