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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: 1-34988872-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=34988872&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 34988872,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007167.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Thr",
"transcript": "NM_007167.4",
"protein_id": "NP_009098.3",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": "ENST00000357182.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007167.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Thr",
"transcript": "ENST00000357182.9",
"protein_id": "ENSP00000349708.4",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": "NM_007167.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357182.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "n.3534G>C",
"hgvs_p": null,
"transcript": "ENST00000493328.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 6241,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493328.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271741",
"gene_hgnc_id": null,
"hgvs_c": "n.2146+3362G>C",
"hgvs_p": null,
"transcript": "ENST00000487874.1",
"protein_id": "ENSP00000421752.1",
"transcript_support_level": 5,
"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": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487874.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2282G>C",
"hgvs_p": "p.Arg761Thr",
"transcript": "ENST00000859306.1",
"protein_id": "ENSP00000529365.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1349,
"cds_start": 2282,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859306.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Thr",
"transcript": "ENST00000859303.1",
"protein_id": "ENSP00000529362.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859303.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Thr",
"transcript": "ENST00000929017.1",
"protein_id": "ENSP00000599076.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929017.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Thr",
"transcript": "ENST00000929018.1",
"protein_id": "ENSP00000599077.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929018.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Thr",
"transcript": "ENST00000965365.1",
"protein_id": "ENSP00000635424.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3304,
"cdna_end": null,
"cdna_length": 6008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965365.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Thr",
"transcript": "ENST00000965366.1",
"protein_id": "ENSP00000635425.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965366.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Thr",
"transcript": "ENST00000965367.1",
"protein_id": "ENSP00000635426.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965367.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.1931G>C",
"hgvs_p": "p.Arg644Thr",
"transcript": "ENST00000929016.1",
"protein_id": "ENSP00000599075.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1232,
"cds_start": 1931,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2147-72G>C",
"hgvs_p": null,
"transcript": "ENST00000859302.1",
"protein_id": "ENSP00000529361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1280,
"cds_start": null,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2147-1320G>C",
"hgvs_p": null,
"transcript": "ENST00000859304.1",
"protein_id": "ENSP00000529363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859304.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2147-1320G>C",
"hgvs_p": null,
"transcript": "ENST00000859305.1",
"protein_id": "ENSP00000529364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859305.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.2147-1320G>C",
"hgvs_p": null,
"transcript": "ENST00000929015.1",
"protein_id": "ENSP00000599074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"hgvs_c": "c.1955-1320G>C",
"hgvs_p": null,
"transcript": "ENST00000965368.1",
"protein_id": "ENSP00000635427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": null,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965368.1"
}
],
"gene_symbol": "ZMYM6",
"gene_hgnc_id": 13050,
"dbsnp": "rs61741445",
"frequency_reference_population": 0.0016499272,
"hom_count_reference_population": 25,
"allele_count_reference_population": 2657,
"gnomad_exomes_af": 0.00164182,
"gnomad_genomes_af": 0.00172754,
"gnomad_exomes_ac": 2394,
"gnomad_genomes_ac": 263,
"gnomad_exomes_homalt": 24,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003646254539489746,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.1317,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.014,
"phylop100way_prediction": "Benign",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_007167.4",
"gene_symbol": "ZMYM6",
"hgnc_id": 13050,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Thr"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000487874.1",
"gene_symbol": "ENSG00000271741",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2146+3362G>C",
"hgvs_p": null
}
],
"clinvar_disease": "ZMYM6-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ZMYM6-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}