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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: 8-99193027-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=99193027&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 99193027,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357162.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Ala829Thr",
"transcript": "NM_017890.5",
"protein_id": "NP_060360.3",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 4022,
"cds_start": 2485,
"cds_end": null,
"cds_length": 12069,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 14086,
"mane_select": null,
"mane_plus": "ENST00000358544.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Ala829Thr",
"transcript": "ENST00000358544.7",
"protein_id": "ENSP00000351346.2",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 4022,
"cds_start": 2485,
"cds_end": null,
"cds_length": 12069,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 14086,
"mane_select": null,
"mane_plus": "NM_017890.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Ala829Thr",
"transcript": "NM_152564.5",
"protein_id": "NP_689777.3",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 3997,
"cds_start": 2485,
"cds_end": null,
"cds_length": 11994,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 14011,
"mane_select": "ENST00000357162.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Ala829Thr",
"transcript": "ENST00000357162.7",
"protein_id": "ENSP00000349685.2",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 3997,
"cds_start": 2485,
"cds_end": null,
"cds_length": 11994,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 14011,
"mane_select": "NM_152564.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2485G>A",
"hgvs_p": null,
"transcript": "ENST00000355155.6",
"protein_id": "ENSP00000347281.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Ala829Thr",
"transcript": "NM_015243.3",
"protein_id": "NP_056058.2",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 863,
"cds_start": 2485,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2485G>A",
"hgvs_p": null,
"transcript": "ENST00000496144.5",
"protein_id": "ENSP00000430900.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.392G>A",
"hgvs_p": null,
"transcript": "ENST00000521932.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2362G>A",
"hgvs_p": null,
"transcript": "ENST00000682145.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2485G>A",
"hgvs_p": null,
"transcript": "ENST00000682153.1",
"protein_id": "ENSP00000507923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2485G>A",
"hgvs_p": null,
"transcript": "ENST00000682234.1",
"protein_id": "ENSP00000508225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2555G>A",
"hgvs_p": null,
"transcript": "ENST00000682358.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2705G>A",
"hgvs_p": null,
"transcript": "ENST00000682853.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2485G>A",
"hgvs_p": null,
"transcript": "ENST00000683334.1",
"protein_id": "ENSP00000507369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2551G>A",
"hgvs_p": null,
"transcript": "ENST00000683486.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2657G>A",
"hgvs_p": null,
"transcript": "ENST00000683619.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2566G>A",
"hgvs_p": null,
"transcript": "ENST00000683869.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.2551G>A",
"hgvs_p": null,
"transcript": "ENST00000684308.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"dbsnp": "rs61753721",
"frequency_reference_population": 0.011059865,
"hom_count_reference_population": 129,
"allele_count_reference_population": 17846,
"gnomad_exomes_af": 0.0113546,
"gnomad_genomes_af": 0.00823097,
"gnomad_exomes_ac": 16593,
"gnomad_genomes_ac": 1253,
"gnomad_exomes_homalt": 121,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0068645179271698,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.0714,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.937,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000357162.7",
"gene_symbol": "VPS13B",
"hgnc_id": 2183,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Ala829Thr"
}
],
"clinvar_disease": "Cohen syndrome,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:7 O:1",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases|Cohen syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}