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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: 1-205211450-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205211450&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205211450,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015375.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "NM_015375.3",
"protein_id": "NP_056190.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 929,
"cds_start": 86,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367162.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015375.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000367162.8",
"protein_id": "ENSP00000356130.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 929,
"cds_start": 86,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015375.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367162.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000367161.7",
"protein_id": "ENSP00000356129.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 884,
"cds_start": 86,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367161.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000893236.1",
"protein_id": "ENSP00000563295.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 920,
"cds_start": 86,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893236.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000956899.1",
"protein_id": "ENSP00000626958.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 917,
"cds_start": 86,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956899.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000893239.1",
"protein_id": "ENSP00000563298.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 891,
"cds_start": 86,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893239.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "NM_199462.3",
"protein_id": "NP_955749.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 884,
"cds_start": 86,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199462.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000893240.1",
"protein_id": "ENSP00000563299.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 875,
"cds_start": 86,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893240.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000893238.1",
"protein_id": "ENSP00000563297.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 737,
"cds_start": 86,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893238.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000893237.1",
"protein_id": "ENSP00000563296.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 692,
"cds_start": 86,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893237.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000893241.1",
"protein_id": "ENSP00000563300.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 628,
"cds_start": 86,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893241.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000956900.1",
"protein_id": "ENSP00000626959.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 576,
"cds_start": 86,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956900.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "XM_011509392.3",
"protein_id": "XP_011507694.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 920,
"cds_start": 86,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509392.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "XM_047417145.1",
"protein_id": "XP_047273101.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 875,
"cds_start": 86,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417145.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.-153G>A",
"hgvs_p": null,
"transcript": "XM_011509394.3",
"protein_id": "XP_011507696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": null,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509394.3"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"hgvs_c": "c.-153G>A",
"hgvs_p": null,
"transcript": "XM_047417152.1",
"protein_id": "XP_047273108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417152.1"
}
],
"gene_symbol": "DSTYK",
"gene_hgnc_id": 29043,
"dbsnp": "rs200780796",
"frequency_reference_population": 0.0006577902,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1052,
"gnomad_exomes_af": 0.000651024,
"gnomad_genomes_af": 0.00072206,
"gnomad_exomes_ac": 942,
"gnomad_genomes_ac": 110,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012831062078475952,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.384,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2087,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.215,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015375.3",
"gene_symbol": "DSTYK",
"hgnc_id": 29043,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln"
}
],
"clinvar_disease": "Congenital anomalies of kidney and urinary tract 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:1",
"phenotype_combined": "Congenital anomalies of kidney and urinary tract 1|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}