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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: 1-15112491-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15112491&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15112491,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_201628.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Trp",
"transcript": "NM_201628.3",
"protein_id": "NP_963922.2",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 775,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376030.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201628.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Trp",
"transcript": "ENST00000376030.7",
"protein_id": "ENSP00000365198.2",
"transcript_support_level": 5,
"aa_start": 705,
"aa_end": null,
"aa_length": 775,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201628.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376030.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM51-AS1",
"gene_hgnc_id": 26301,
"hgvs_c": "n.6297G>A",
"hgvs_p": null,
"transcript": "ENST00000404665.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000404665.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.2377C>T",
"hgvs_p": "p.Arg793Trp",
"transcript": "ENST00000636203.1",
"protein_id": "ENSP00000490958.1",
"transcript_support_level": 5,
"aa_start": 793,
"aa_end": null,
"aa_length": 863,
"cds_start": 2377,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636203.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Trp",
"transcript": "XM_011541074.4",
"protein_id": "XP_011539376.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 979,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541074.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Trp",
"transcript": "XM_047415845.1",
"protein_id": "XP_047271801.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 881,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415845.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Trp",
"transcript": "XM_011541075.3",
"protein_id": "XP_011539377.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 875,
"cds_start": 2095,
"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_011541075.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Trp",
"transcript": "XM_005245795.6",
"protein_id": "XP_005245852.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 873,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245795.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.2086C>T",
"hgvs_p": "p.Arg696Trp",
"transcript": "XM_047415858.1",
"protein_id": "XP_047271814.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 872,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415858.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Trp",
"transcript": "XM_011541076.3",
"protein_id": "XP_011539378.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 787,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541076.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Trp",
"transcript": "XM_011541077.3",
"protein_id": "XP_011539379.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 787,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541077.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346Trp",
"transcript": "XM_047415868.1",
"protein_id": "XP_047271824.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 522,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM51-AS1",
"gene_hgnc_id": 26301,
"hgvs_c": "n.6424G>A",
"hgvs_p": null,
"transcript": "ENST00000310916.6",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000310916.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM51-AS1",
"gene_hgnc_id": 26301,
"hgvs_c": "n.6303G>A",
"hgvs_p": null,
"transcript": "NR_027136.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027136.1"
}
],
"gene_symbol": "KAZN",
"gene_hgnc_id": 29173,
"dbsnp": "rs750370600",
"frequency_reference_population": 0.0000041182657,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000411827,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2931993007659912,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.224,
"revel_prediction": "Benign",
"alphamissense_score": 0.1734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.991,
"phylop100way_prediction": "Benign",
"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": 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": "NM_201628.3",
"gene_symbol": "KAZN",
"hgnc_id": 29173,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Trp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000404665.4",
"gene_symbol": "TMEM51-AS1",
"hgnc_id": 26301,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.6297G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}