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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: 1-205169234-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205169234&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205169234,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367162.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asp418Gly",
"transcript": "NM_015375.3",
"protein_id": "NP_056190.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 929,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 8010,
"mane_select": "ENST00000367162.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asp418Gly",
"transcript": "ENST00000367162.8",
"protein_id": "ENSP00000356130.3",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 929,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 8010,
"mane_select": "NM_015375.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asp418Gly",
"transcript": "ENST00000367161.7",
"protein_id": "ENSP00000356129.3",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 884,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 7739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asp418Gly",
"transcript": "NM_199462.3",
"protein_id": "NP_955749.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 884,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1226A>G",
"hgvs_p": "p.Asp409Gly",
"transcript": "XM_011509392.3",
"protein_id": "XP_011507694.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 920,
"cds_start": 1226,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 7983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1226A>G",
"hgvs_p": "p.Asp409Gly",
"transcript": "XM_047417145.1",
"protein_id": "XP_047273101.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 875,
"cds_start": 1226,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 7848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.668A>G",
"hgvs_p": "p.Asp223Gly",
"transcript": "XM_047417147.1",
"protein_id": "XP_047273103.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 734,
"cds_start": 668,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 7372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Asp209Gly",
"transcript": "XM_011509394.3",
"protein_id": "XP_011507696.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 720,
"cds_start": 626,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 7621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.668A>G",
"hgvs_p": "p.Asp223Gly",
"transcript": "XM_047417151.1",
"protein_id": "XP_047273107.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 689,
"cds_start": 668,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 7498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Asp209Gly",
"transcript": "XM_047417152.1",
"protein_id": "XP_047273108.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 675,
"cds_start": 626,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 7486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"dbsnp": "rs555607162",
"frequency_reference_population": 0.0000024784315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205231,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3640085458755493,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.361,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1539,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.014,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367162.8",
"gene_symbol": "DSTYK",
"hgnc_id": 29043,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asp418Gly"
}
],
"clinvar_disease": "Congenital anomalies of kidney and urinary tract 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital anomalies of kidney and urinary tract 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}