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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: 17-78484945-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78484945&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78484945,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173628.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.7572G>T",
"hgvs_p": "p.Met2524Ile",
"transcript": "NM_173628.4",
"protein_id": "NP_775899.3",
"transcript_support_level": null,
"aa_start": 2524,
"aa_end": null,
"aa_length": 4462,
"cds_start": 7572,
"cds_end": null,
"cds_length": 13389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389840.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173628.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.7572G>T",
"hgvs_p": "p.Met2524Ile",
"transcript": "ENST00000389840.7",
"protein_id": "ENSP00000374490.6",
"transcript_support_level": 5,
"aa_start": 2524,
"aa_end": null,
"aa_length": 4462,
"cds_start": 7572,
"cds_end": null,
"cds_length": 13389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173628.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389840.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.7572G>T",
"hgvs_p": "p.Met2524Ile",
"transcript": "XM_011525416.3",
"protein_id": "XP_011523718.1",
"transcript_support_level": null,
"aa_start": 2524,
"aa_end": null,
"aa_length": 4466,
"cds_start": 7572,
"cds_end": null,
"cds_length": 13401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525416.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.7428G>T",
"hgvs_p": "p.Met2476Ile",
"transcript": "XM_024451013.2",
"protein_id": "XP_024306781.1",
"transcript_support_level": null,
"aa_start": 2476,
"aa_end": null,
"aa_length": 4418,
"cds_start": 7428,
"cds_end": null,
"cds_length": 13257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451013.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.7572G>T",
"hgvs_p": "p.Met2524Ile",
"transcript": "XM_047436981.1",
"protein_id": "XP_047292937.1",
"transcript_support_level": null,
"aa_start": 2524,
"aa_end": null,
"aa_length": 3856,
"cds_start": 7572,
"cds_end": null,
"cds_length": 11571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436981.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "c.7572G>T",
"hgvs_p": "p.Met2524Ile",
"transcript": "XM_024451014.2",
"protein_id": "XP_024306782.1",
"transcript_support_level": null,
"aa_start": 2524,
"aa_end": null,
"aa_length": 3510,
"cds_start": 7572,
"cds_end": null,
"cds_length": 10533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451014.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"hgvs_c": "n.951G>T",
"hgvs_p": null,
"transcript": "ENST00000586052.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000586052.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17-AS1",
"gene_hgnc_id": 48594,
"hgvs_c": "n.64C>A",
"hgvs_p": null,
"transcript": "ENST00000588565.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000588565.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"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.36C>A",
"hgvs_p": null,
"transcript": "ENST00000591373.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000591373.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH17-AS1",
"gene_hgnc_id": 48594,
"hgvs_c": "n.28C>A",
"hgvs_p": null,
"transcript": "ENST00000663269.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"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.36C>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_102401.1"
}
],
"gene_symbol": "DNAH17",
"gene_hgnc_id": 2946,
"dbsnp": "rs138780306",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5517970323562622,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.3712,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.881,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173628.4",
"gene_symbol": "DNAH17",
"hgnc_id": 2946,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7572G>T",
"hgvs_p": "p.Met2524Ile"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000588565.5",
"gene_symbol": "DNAH17-AS1",
"hgnc_id": 48594,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.64C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}