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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: 17-78500410-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78500410&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78500410,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000389840.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.5535T>C",
"hgvs_p": "p.Pro1845Pro",
"transcript": "NM_173628.4",
"protein_id": "NP_775899.3",
"transcript_support_level": null,
"aa_start": 1845,
"aa_end": null,
"aa_length": 4462,
"cds_start": 5535,
"cds_end": null,
"cds_length": 13389,
"cdna_start": 5662,
"cdna_end": null,
"cdna_length": 13725,
"mane_select": "ENST00000389840.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.5535T>C",
"hgvs_p": "p.Pro1845Pro",
"transcript": "ENST00000389840.7",
"protein_id": "ENSP00000374490.6",
"transcript_support_level": 5,
"aa_start": 1845,
"aa_end": null,
"aa_length": 4462,
"cds_start": 5535,
"cds_end": null,
"cds_length": 13389,
"cdna_start": 5662,
"cdna_end": null,
"cdna_length": 13725,
"mane_select": "NM_173628.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.5535T>C",
"hgvs_p": "p.Pro1845Pro",
"transcript": "XM_011525416.3",
"protein_id": "XP_011523718.1",
"transcript_support_level": null,
"aa_start": 1845,
"aa_end": null,
"aa_length": 4466,
"cds_start": 5535,
"cds_end": null,
"cds_length": 13401,
"cdna_start": 5662,
"cdna_end": null,
"cdna_length": 13737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.5391T>C",
"hgvs_p": "p.Pro1797Pro",
"transcript": "XM_024451013.2",
"protein_id": "XP_024306781.1",
"transcript_support_level": null,
"aa_start": 1797,
"aa_end": null,
"aa_length": 4418,
"cds_start": 5391,
"cds_end": null,
"cds_length": 13257,
"cdna_start": 5518,
"cdna_end": null,
"cdna_length": 13593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.5535T>C",
"hgvs_p": "p.Pro1845Pro",
"transcript": "XM_047436981.1",
"protein_id": "XP_047292937.1",
"transcript_support_level": null,
"aa_start": 1845,
"aa_end": null,
"aa_length": 3856,
"cds_start": 5535,
"cds_end": null,
"cds_length": 11571,
"cdna_start": 5662,
"cdna_end": null,
"cdna_length": 11777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.5535T>C",
"hgvs_p": "p.Pro1845Pro",
"transcript": "XM_024451014.2",
"protein_id": "XP_024306782.1",
"transcript_support_level": null,
"aa_start": 1845,
"aa_end": null,
"aa_length": 3510,
"cds_start": 5535,
"cds_end": null,
"cds_length": 10533,
"cdna_start": 5662,
"cdna_end": null,
"cdna_length": 10766,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17-AS1",
"gene_hgnc_id": 48594,
"hgvs_c": "n.1951A>G",
"hgvs_p": null,
"transcript": "ENST00000598378.2",
"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": 4597,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17-AS1",
"gene_hgnc_id": 48594,
"hgvs_c": "n.2517A>G",
"hgvs_p": null,
"transcript": "NR_102401.1",
"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": 5163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"dbsnp": "rs2028734",
"frequency_reference_population": 0.8346173,
"hom_count_reference_population": 563323,
"allele_count_reference_population": 1344051,
"gnomad_exomes_af": 0.831106,
"gnomad_genomes_af": 0.868253,
"gnomad_exomes_ac": 1211882,
"gnomad_genomes_ac": 132169,
"gnomad_exomes_homalt": 505493,
"gnomad_genomes_homalt": 57830,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.268,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000389840.7",
"gene_symbol": "DNAH17",
"hgnc_id": 2946,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5535T>C",
"hgvs_p": "p.Pro1845Pro"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000598378.2",
"gene_symbol": "DNAH17-AS1",
"hgnc_id": 48594,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1951A>G",
"hgvs_p": null
}
],
"clinvar_disease": "DNAH17-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|DNAH17-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}