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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: 9-19058318-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19058318&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 19058318,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017645.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Val817Met",
"transcript": "NM_017645.5",
"protein_id": "NP_060115.3",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 955,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380502.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017645.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Val817Met",
"transcript": "ENST00000380502.8",
"protein_id": "ENSP00000369871.3",
"transcript_support_level": 1,
"aa_start": 817,
"aa_end": null,
"aa_length": 955,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017645.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380502.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2635G>A",
"hgvs_p": "p.Val879Met",
"transcript": "ENST00000888740.1",
"protein_id": "ENSP00000558799.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2635,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888740.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2500G>A",
"hgvs_p": "p.Val834Met",
"transcript": "ENST00000888738.1",
"protein_id": "ENSP00000558797.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 972,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888738.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2344G>A",
"hgvs_p": "p.Val782Met",
"transcript": "NM_001270890.2",
"protein_id": "NP_001257819.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 920,
"cds_start": 2344,
"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": "NM_001270890.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met",
"transcript": "ENST00000888741.1",
"protein_id": "ENSP00000558800.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 898,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888741.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Val755Met",
"transcript": "ENST00000888739.1",
"protein_id": "ENSP00000558798.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 893,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888739.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Val681Met",
"transcript": "ENST00000380496.5",
"protein_id": "ENSP00000369865.1",
"transcript_support_level": 2,
"aa_start": 681,
"aa_end": null,
"aa_length": 802,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380496.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.1798G>A",
"hgvs_p": "p.Val600Met",
"transcript": "XM_047423518.1",
"protein_id": "XP_047279474.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 738,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423518.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Val386Met",
"transcript": "XM_011517935.3",
"protein_id": "XP_011516237.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 524,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517935.3"
}
],
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"dbsnp": "rs142674219",
"frequency_reference_population": 0.000021690092,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000109481,
"gnomad_genomes_af": 0.000124837,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03636416792869568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0936,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.491,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017645.5",
"gene_symbol": "HAUS6",
"hgnc_id": 25948,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Val817Met"
}
],
"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
}