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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: 14-73689432-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73689432&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73689432,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000553645.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Asn150Ser",
"transcript": "NM_031427.4",
"protein_id": "NP_113615.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 190,
"cds_start": 449,
"cds_end": null,
"cds_length": 573,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 8417,
"mane_select": "ENST00000553645.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Asn150Ser",
"transcript": "ENST00000553645.7",
"protein_id": "ENSP00000452037.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 190,
"cds_start": 449,
"cds_end": null,
"cds_length": 573,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 8417,
"mane_select": "NM_031427.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Asn111Ser",
"transcript": "ENST00000554871.5",
"protein_id": "ENSP00000451834.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 151,
"cds_start": 332,
"cds_end": null,
"cds_length": 456,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Asn111Ser",
"transcript": "NM_001201366.2",
"protein_id": "NP_001188295.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 151,
"cds_start": 332,
"cds_end": null,
"cds_length": 456,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 8463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Asn111Ser",
"transcript": "ENST00000555631.6",
"protein_id": "ENSP00000451547.2",
"transcript_support_level": 4,
"aa_start": 111,
"aa_end": null,
"aa_length": 137,
"cds_start": 332,
"cds_end": null,
"cds_length": 415,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.188A>G",
"hgvs_p": "p.Asn63Ser",
"transcript": "ENST00000554339.5",
"protein_id": "ENSP00000450744.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 103,
"cds_start": 188,
"cds_end": null,
"cds_length": 312,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.110A>G",
"hgvs_p": "p.Asn37Ser",
"transcript": "ENST00000311089.7",
"protein_id": "ENSP00000310360.3",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 77,
"cds_start": 110,
"cds_end": null,
"cds_length": 234,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.110A>G",
"hgvs_p": "p.Asn37Ser",
"transcript": "ENST00000559993.1",
"protein_id": "ENSP00000453439.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 64,
"cds_start": 110,
"cds_end": null,
"cds_length": 195,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.110A>G",
"hgvs_p": "p.Asn37Ser",
"transcript": "ENST00000554113.5",
"protein_id": "ENSP00000452368.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 56,
"cds_start": 110,
"cds_end": null,
"cds_length": 171,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Asn111Ser",
"transcript": "XM_017021679.3",
"protein_id": "XP_016877168.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 151,
"cds_start": 332,
"cds_end": null,
"cds_length": 456,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 8562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Asn111Ser",
"transcript": "XM_024449715.2",
"protein_id": "XP_024305483.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 151,
"cds_start": 332,
"cds_end": null,
"cds_length": 456,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 8520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"hgvs_c": "n.*74+2047A>G",
"hgvs_p": null,
"transcript": "ENST00000554159.1",
"protein_id": "ENSP00000451264.1",
"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": 452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAL1",
"gene_hgnc_id": 23247,
"dbsnp": "rs387907021",
"frequency_reference_population": 0.0000065657296,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656573,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8049771189689636,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.611,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9522,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.253,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000553645.7",
"gene_symbol": "DNAL1",
"hgnc_id": 23247,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Asn150Ser"
}
],
"clinvar_disease": "Kartagener syndrome,Primary ciliary dyskinesia 16",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Primary ciliary dyskinesia 16|Kartagener syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}