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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: 17-11747740-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=11747740&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 11747740,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000262442.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.6584A>G",
"hgvs_p": "p.Asn2195Ser",
"transcript": "NM_001372.4",
"protein_id": "NP_001363.2",
"transcript_support_level": null,
"aa_start": 2195,
"aa_end": null,
"aa_length": 4486,
"cds_start": 6584,
"cds_end": null,
"cds_length": 13461,
"cdna_start": 6613,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": "ENST00000262442.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.6584A>G",
"hgvs_p": "p.Asn2195Ser",
"transcript": "ENST00000262442.9",
"protein_id": "ENSP00000262442.3",
"transcript_support_level": 1,
"aa_start": 2195,
"aa_end": null,
"aa_length": 4486,
"cds_start": 6584,
"cds_end": null,
"cds_length": 13461,
"cdna_start": 6613,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": "NM_001372.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.6584A>G",
"hgvs_p": "p.Asn2195Ser",
"transcript": "ENST00000454412.6",
"protein_id": "ENSP00000414874.2",
"transcript_support_level": 5,
"aa_start": 2195,
"aa_end": null,
"aa_length": 4410,
"cds_start": 6584,
"cds_end": null,
"cds_length": 13233,
"cdna_start": 6584,
"cdna_end": null,
"cdna_length": 13452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.6584A>G",
"hgvs_p": "p.Asn2195Ser",
"transcript": "XM_011523703.3",
"protein_id": "XP_011522005.1",
"transcript_support_level": null,
"aa_start": 2195,
"aa_end": null,
"aa_length": 4501,
"cds_start": 6584,
"cds_end": null,
"cds_length": 13506,
"cdna_start": 6613,
"cdna_end": null,
"cdna_length": 13756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.6467A>G",
"hgvs_p": "p.Asn2156Ser",
"transcript": "XM_017024292.3",
"protein_id": "XP_016879781.1",
"transcript_support_level": null,
"aa_start": 2156,
"aa_end": null,
"aa_length": 4462,
"cds_start": 6467,
"cds_end": null,
"cds_length": 13389,
"cdna_start": 6496,
"cdna_end": null,
"cdna_length": 13639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.4466A>G",
"hgvs_p": "p.Asn1489Ser",
"transcript": "XM_017024293.2",
"protein_id": "XP_016879782.1",
"transcript_support_level": null,
"aa_start": 1489,
"aa_end": null,
"aa_length": 3795,
"cds_start": 4466,
"cds_end": null,
"cds_length": 11388,
"cdna_start": 4560,
"cdna_end": null,
"cdna_length": 11703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.6584A>G",
"hgvs_p": "p.Asn2195Ser",
"transcript": "XM_017024294.2",
"protein_id": "XP_016879783.1",
"transcript_support_level": null,
"aa_start": 2195,
"aa_end": null,
"aa_length": 3362,
"cds_start": 6584,
"cds_end": null,
"cds_length": 10089,
"cdna_start": 6613,
"cdna_end": null,
"cdna_length": 10217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.6584A>G",
"hgvs_p": "p.Asn2195Ser",
"transcript": "XM_017024295.2",
"protein_id": "XP_016879784.1",
"transcript_support_level": null,
"aa_start": 2195,
"aa_end": null,
"aa_length": 2548,
"cds_start": 6584,
"cds_end": null,
"cds_length": 7647,
"cdna_start": 6613,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"dbsnp": "rs3744581",
"frequency_reference_population": 0.21844085,
"hom_count_reference_population": 39777,
"allele_count_reference_population": 352363,
"gnomad_exomes_af": 0.219726,
"gnomad_genomes_af": 0.206097,
"gnomad_exomes_ac": 321009,
"gnomad_genomes_ac": 31354,
"gnomad_exomes_homalt": 36387,
"gnomad_genomes_homalt": 3390,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001878976821899414,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.609,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.477,
"phylop100way_prediction": "Uncertain_significance",
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000262442.9",
"gene_symbol": "DNAH9",
"hgnc_id": 2953,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6584A>G",
"hgvs_p": "p.Asn2195Ser"
}
],
"clinvar_disease": " 40, primary,Ciliary dyskinesia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|not provided|Ciliary dyskinesia, primary, 40",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}