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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: 7-774113-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=774113&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 774113,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017802.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1997C>T",
"hgvs_p": "p.Ala666Val",
"transcript": "NM_017802.4",
"protein_id": "NP_060272.3",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 855,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297440.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017802.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1997C>T",
"hgvs_p": "p.Ala666Val",
"transcript": "ENST00000297440.11",
"protein_id": "ENSP00000297440.6",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 855,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017802.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297440.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Ala91Val",
"transcript": "ENST00000403952.3",
"protein_id": "ENSP00000384884.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 280,
"cds_start": 272,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403952.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2078C>T",
"hgvs_p": "p.Ala693Val",
"transcript": "ENST00000852634.1",
"protein_id": "ENSP00000522693.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 882,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852634.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2018C>T",
"hgvs_p": "p.Ala673Val",
"transcript": "ENST00000852633.1",
"protein_id": "ENSP00000522692.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 862,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852633.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1991C>T",
"hgvs_p": "p.Ala664Val",
"transcript": "ENST00000852635.1",
"protein_id": "ENSP00000522694.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 853,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852635.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1922C>T",
"hgvs_p": "p.Ala641Val",
"transcript": "ENST00000913166.1",
"protein_id": "ENSP00000583225.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 830,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913166.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1997C>T",
"hgvs_p": "p.Ala666Val",
"transcript": "ENST00000852632.1",
"protein_id": "ENSP00000522691.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 791,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852632.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1568C>T",
"hgvs_p": "p.Ala523Val",
"transcript": "ENST00000852631.1",
"protein_id": "ENSP00000522690.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 712,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852631.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1400C>T",
"hgvs_p": "p.Ala467Val",
"transcript": "ENST00000440747.5",
"protein_id": "ENSP00000403165.1",
"transcript_support_level": 2,
"aa_start": 467,
"aa_end": null,
"aa_length": 656,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440747.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1568C>T",
"hgvs_p": "p.Ala523Val",
"transcript": "ENST00000913167.1",
"protein_id": "ENSP00000583226.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 648,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913167.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Ala413Val",
"transcript": "ENST00000972191.1",
"protein_id": "ENSP00000642250.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 602,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972191.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1997C>T",
"hgvs_p": "p.Ala666Val",
"transcript": "XM_024446813.2",
"protein_id": "XP_024302581.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 791,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446813.2"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "n.1957C>T",
"hgvs_p": null,
"transcript": "NR_075098.2",
"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_075098.2"
}
],
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"dbsnp": "rs761189541",
"frequency_reference_population": 0.000003422009,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342201,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9676939249038696,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.483,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3568,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.517,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_017802.4",
"gene_symbol": "DNAAF5",
"hgnc_id": 26013,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1997C>T",
"hgvs_p": "p.Ala666Val"
}
],
"clinvar_disease": "Primary ciliary dyskinesia,Primary ciliary dyskinesia 18",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Primary ciliary dyskinesia|Primary ciliary dyskinesia 18",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}