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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: 1-62263230-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62263230&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 62263230,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000371153.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.2401T>C",
"hgvs_p": "p.Tyr801His",
"transcript": "NM_181712.5",
"protein_id": "NP_859063.3",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 995,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 5499,
"mane_select": "ENST00000371153.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.2401T>C",
"hgvs_p": "p.Tyr801His",
"transcript": "ENST00000371153.9",
"protein_id": "ENSP00000360195.4",
"transcript_support_level": 1,
"aa_start": 801,
"aa_end": null,
"aa_length": 995,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 5499,
"mane_select": "NM_181712.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.517T>C",
"hgvs_p": "p.Tyr173His",
"transcript": "NM_001320269.2",
"protein_id": "NP_001307198.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 367,
"cds_start": 517,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.517T>C",
"hgvs_p": "p.Tyr173His",
"transcript": "ENST00000354381.3",
"protein_id": "ENSP00000346352.3",
"transcript_support_level": 2,
"aa_start": 173,
"aa_end": null,
"aa_length": 367,
"cds_start": 517,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.469T>C",
"hgvs_p": "p.Tyr157His",
"transcript": "ENST00000371150.5",
"protein_id": "ENSP00000360192.1",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 351,
"cds_start": 469,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.2401T>C",
"hgvs_p": "p.Tyr801His",
"transcript": "XM_047447839.1",
"protein_id": "XP_047303795.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 995,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.2401T>C",
"hgvs_p": "p.Tyr801His",
"transcript": "XM_047447840.1",
"protein_id": "XP_047303796.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 995,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2601,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.2401T>C",
"hgvs_p": "p.Tyr801His",
"transcript": "XM_047447850.1",
"protein_id": "XP_047303806.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 995,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 5305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.2401T>C",
"hgvs_p": "p.Tyr801His",
"transcript": "XM_011540845.4",
"protein_id": "XP_011539147.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 971,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.2401T>C",
"hgvs_p": "p.Tyr801His",
"transcript": "XM_017000483.3",
"protein_id": "XP_016855972.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 928,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.517T>C",
"hgvs_p": "p.Tyr173His",
"transcript": "XM_017000484.3",
"protein_id": "XP_016855973.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 367,
"cds_start": 517,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.469T>C",
"hgvs_p": "p.Tyr157His",
"transcript": "XM_017000485.3",
"protein_id": "XP_016855974.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 351,
"cds_start": 469,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"hgvs_c": "c.-186T>C",
"hgvs_p": null,
"transcript": "ENST00000317477.8",
"protein_id": "ENSP00000321161.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": -4,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KANK4",
"gene_hgnc_id": 27263,
"dbsnp": "rs145623004",
"frequency_reference_population": 0.0011537141,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1862,
"gnomad_exomes_af": 0.0011391,
"gnomad_genomes_af": 0.00129399,
"gnomad_exomes_ac": 1665,
"gnomad_genomes_ac": 197,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011979639530181885,
"computational_prediction_selected": "Benign",
"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": 0.7123,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.932,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000371153.9",
"gene_symbol": "KANK4",
"hgnc_id": 27263,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2401T>C",
"hgvs_p": "p.Tyr801His"
}
],
"clinvar_disease": "KANK4-related disorder,Nephrotic syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided|Nephrotic syndrome|KANK4-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}