← Back to variant description
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: 3-52398959-TACA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52398959&ref=TACA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52398959,
"ref": "TACA",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000420323.7",
"consequences": [
{
"aa_ref": "NN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.12204_12206delCAA",
"hgvs_p": "p.Asn4069del",
"transcript": "NM_015512.5",
"protein_id": "NP_056327.4",
"transcript_support_level": null,
"aa_start": 4068,
"aa_end": null,
"aa_length": 4265,
"cds_start": 12204,
"cds_end": null,
"cds_length": 12798,
"cdna_start": 12465,
"cdna_end": null,
"cdna_length": 13105,
"mane_select": "ENST00000420323.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NN",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.12204_12206delCAA",
"hgvs_p": "p.Asn4069del",
"transcript": "ENST00000420323.7",
"protein_id": "ENSP00000401514.2",
"transcript_support_level": 1,
"aa_start": 4068,
"aa_end": null,
"aa_length": 4265,
"cds_start": 12204,
"cds_end": null,
"cds_length": 12798,
"cdna_start": 12465,
"cdna_end": null,
"cdna_length": 13105,
"mane_select": "NM_015512.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.12273_12275delCAA",
"hgvs_p": "p.Asn4092del",
"transcript": "XM_017006129.2",
"protein_id": "XP_016861618.1",
"transcript_support_level": null,
"aa_start": 4091,
"aa_end": null,
"aa_length": 4288,
"cds_start": 12273,
"cds_end": null,
"cds_length": 12867,
"cdna_start": 17513,
"cdna_end": null,
"cdna_length": 18153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.12204_12206delCAA",
"hgvs_p": "p.Asn4069del",
"transcript": "XM_017006130.2",
"protein_id": "XP_016861619.1",
"transcript_support_level": null,
"aa_start": 4068,
"aa_end": null,
"aa_length": 4265,
"cds_start": 12204,
"cds_end": null,
"cds_length": 12798,
"cdna_start": 17444,
"cdna_end": null,
"cdna_length": 18084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "c.12147_12149delCAA",
"hgvs_p": "p.Asn4050del",
"transcript": "XM_017006131.2",
"protein_id": "XP_016861620.1",
"transcript_support_level": null,
"aa_start": 4049,
"aa_end": null,
"aa_length": 4246,
"cds_start": 12147,
"cds_end": null,
"cds_length": 12741,
"cdna_start": 17387,
"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": 75,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.12661_12663delCAA",
"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": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.3990_3992delCAA",
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH1",
"gene_hgnc_id": 2940,
"hgvs_c": "n.2773_2775delCAA",
"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": "rs772396187",
"frequency_reference_population": 0.00013199495,
"hom_count_reference_population": 0,
"allele_count_reference_population": 213,
"gnomad_exomes_af": 0.000134794,
"gnomad_genomes_af": 0.000105121,
"gnomad_exomes_ac": 197,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.936,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000420323.7",
"gene_symbol": "DNAH1",
"hgnc_id": 2940,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.12204_12206delCAA",
"hgvs_p": "p.Asn4069del"
}
],
"clinvar_disease": " 37, primary,Ciliary dyskinesia,Spermatogenic failure 18",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 LB:1",
"phenotype_combined": "Spermatogenic failure 18;Ciliary dyskinesia, primary, 37",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}