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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: 3-52391486-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52391486&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52391486,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000420323.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.9935C>G",
"hgvs_p": "p.Thr3312Arg",
"transcript": "NM_015512.5",
"protein_id": "NP_056327.4",
"transcript_support_level": null,
"aa_start": 3312,
"aa_end": null,
"aa_length": 4265,
"cds_start": 9935,
"cds_end": null,
"cds_length": 12798,
"cdna_start": 10196,
"cdna_end": null,
"cdna_length": 13105,
"mane_select": "ENST00000420323.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.9935C>G",
"hgvs_p": "p.Thr3312Arg",
"transcript": "ENST00000420323.7",
"protein_id": "ENSP00000401514.2",
"transcript_support_level": 1,
"aa_start": 3312,
"aa_end": null,
"aa_length": 4265,
"cds_start": 9935,
"cds_end": null,
"cds_length": 12798,
"cdna_start": 10196,
"cdna_end": null,
"cdna_length": 13105,
"mane_select": "NM_015512.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.368C>G",
"hgvs_p": "p.Thr123Arg",
"transcript": "ENST00000480649.1",
"protein_id": "ENSP00000418688.1",
"transcript_support_level": 4,
"aa_start": 123,
"aa_end": null,
"aa_length": 191,
"cds_start": 368,
"cds_end": null,
"cds_length": 578,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.10004C>G",
"hgvs_p": "p.Thr3335Arg",
"transcript": "XM_017006129.2",
"protein_id": "XP_016861618.1",
"transcript_support_level": null,
"aa_start": 3335,
"aa_end": null,
"aa_length": 4288,
"cds_start": 10004,
"cds_end": null,
"cds_length": 12867,
"cdna_start": 15244,
"cdna_end": null,
"cdna_length": 18153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.9935C>G",
"hgvs_p": "p.Thr3312Arg",
"transcript": "XM_017006130.2",
"protein_id": "XP_016861619.1",
"transcript_support_level": null,
"aa_start": 3312,
"aa_end": null,
"aa_length": 4265,
"cds_start": 9935,
"cds_end": null,
"cds_length": 12798,
"cdna_start": 15175,
"cdna_end": null,
"cdna_length": 18084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.9878C>G",
"hgvs_p": "p.Thr3293Arg",
"transcript": "XM_017006131.2",
"protein_id": "XP_016861620.1",
"transcript_support_level": null,
"aa_start": 3293,
"aa_end": null,
"aa_length": 4246,
"cds_start": 9878,
"cds_end": null,
"cds_length": 12741,
"cdna_start": 15118,
"cdna_end": null,
"cdna_length": 18027,
"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": 62,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.10392C>G",
"hgvs_p": null,
"transcript": "ENST00000486752.5",
"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": 13300,
"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": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.1721C>G",
"hgvs_p": null,
"transcript": "ENST00000488988.5",
"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": 4549,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.635C>G",
"hgvs_p": null,
"transcript": "ENST00000490713.5",
"protein_id": "ENSP00000419071.1",
"transcript_support_level": 5,
"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": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"dbsnp": "rs114919804",
"frequency_reference_population": 6.844711e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84471e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.195794939994812,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.4395,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.522,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000420323.7",
"gene_symbol": "DNAH1",
"hgnc_id": 2940,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.9935C>G",
"hgvs_p": "p.Thr3312Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}