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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: 3-52395374-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52395374&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52395374,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000420323.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.11035C>A",
"hgvs_p": "p.Pro3679Thr",
"transcript": "NM_015512.5",
"protein_id": "NP_056327.4",
"transcript_support_level": null,
"aa_start": 3679,
"aa_end": null,
"aa_length": 4265,
"cds_start": 11035,
"cds_end": null,
"cds_length": 12798,
"cdna_start": 11296,
"cdna_end": null,
"cdna_length": 13105,
"mane_select": "ENST00000420323.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.11035C>A",
"hgvs_p": "p.Pro3679Thr",
"transcript": "ENST00000420323.7",
"protein_id": "ENSP00000401514.2",
"transcript_support_level": 1,
"aa_start": 3679,
"aa_end": null,
"aa_length": 4265,
"cds_start": 11035,
"cds_end": null,
"cds_length": 12798,
"cdna_start": 11296,
"cdna_end": null,
"cdna_length": 13105,
"mane_select": "NM_015512.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.11104C>A",
"hgvs_p": "p.Pro3702Thr",
"transcript": "XM_017006129.2",
"protein_id": "XP_016861618.1",
"transcript_support_level": null,
"aa_start": 3702,
"aa_end": null,
"aa_length": 4288,
"cds_start": 11104,
"cds_end": null,
"cds_length": 12867,
"cdna_start": 16344,
"cdna_end": null,
"cdna_length": 18153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.11035C>A",
"hgvs_p": "p.Pro3679Thr",
"transcript": "XM_017006130.2",
"protein_id": "XP_016861619.1",
"transcript_support_level": null,
"aa_start": 3679,
"aa_end": null,
"aa_length": 4265,
"cds_start": 11035,
"cds_end": null,
"cds_length": 12798,
"cdna_start": 16275,
"cdna_end": null,
"cdna_length": 18084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.10978C>A",
"hgvs_p": "p.Pro3660Thr",
"transcript": "XM_017006131.2",
"protein_id": "XP_016861620.1",
"transcript_support_level": null,
"aa_start": 3660,
"aa_end": null,
"aa_length": 4246,
"cds_start": 10978,
"cds_end": null,
"cds_length": 12741,
"cdna_start": 16218,
"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": 68,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.11492C>A",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.530C>A",
"hgvs_p": null,
"transcript": "ENST00000487254.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 565,
"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": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.2821C>A",
"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": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.1735C>A",
"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": "rs771205798",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6559515595436096,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.26,
"revel_prediction": "Benign",
"alphamissense_score": 0.0893,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.677,
"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": "ENST00000420323.7",
"gene_symbol": "DNAH1",
"hgnc_id": 2940,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.11035C>A",
"hgvs_p": "p.Pro3679Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}