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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: 1-205161285-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205161285&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205161285,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000367162.8",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1921T>C",
"hgvs_p": "p.Cys641Arg",
"transcript": "NM_015375.3",
"protein_id": "NP_056190.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 929,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 8010,
"mane_select": "ENST00000367162.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1921T>C",
"hgvs_p": "p.Cys641Arg",
"transcript": "ENST00000367162.8",
"protein_id": "ENSP00000356130.3",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 929,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 8010,
"mane_select": "NM_015375.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1921T>C",
"hgvs_p": "p.Cys641Arg",
"transcript": "ENST00000367161.7",
"protein_id": "ENSP00000356129.3",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 884,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 7739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1921T>C",
"hgvs_p": "p.Cys641Arg",
"transcript": "NM_199462.3",
"protein_id": "NP_955749.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 884,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Cys632Arg",
"transcript": "XM_011509392.3",
"protein_id": "XP_011507694.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 920,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 7983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Cys632Arg",
"transcript": "XM_047417145.1",
"protein_id": "XP_047273101.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 875,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 7848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1336T>C",
"hgvs_p": "p.Cys446Arg",
"transcript": "XM_047417147.1",
"protein_id": "XP_047273103.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 734,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 7372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1294T>C",
"hgvs_p": "p.Cys432Arg",
"transcript": "XM_011509394.3",
"protein_id": "XP_011507696.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 720,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 7621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1336T>C",
"hgvs_p": "p.Cys446Arg",
"transcript": "XM_047417151.1",
"protein_id": "XP_047273107.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 689,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 7498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.1294T>C",
"hgvs_p": "p.Cys432Arg",
"transcript": "XM_047417152.1",
"protein_id": "XP_047273108.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 675,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 7486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"dbsnp": "rs3851294",
"frequency_reference_population": 0.91754985,
"hom_count_reference_population": 680196,
"allele_count_reference_population": 1480953,
"gnomad_exomes_af": 0.91568,
"gnomad_genomes_af": 0.935503,
"gnomad_exomes_ac": 1338519,
"gnomad_genomes_ac": 142434,
"gnomad_exomes_homalt": 613481,
"gnomad_genomes_homalt": 66715,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.123712061409606e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.0454,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.273,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367162.8",
"gene_symbol": "DSTYK",
"hgnc_id": 29043,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1921T>C",
"hgvs_p": "p.Cys641Arg"
}
],
"clinvar_disease": "Congenital anomalies of kidney and urinary tract 1,Hereditary spastic paraplegia 23,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|not provided|Congenital anomalies of kidney and urinary tract 1|Hereditary spastic paraplegia 23",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}