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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: 11-88149745-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=88149745&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 88149745,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022337.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB38",
"gene_hgnc_id": 9776,
"hgvs_c": "c.413A>T",
"hgvs_p": "p.Asn138Ile",
"transcript": "NM_022337.3",
"protein_id": "NP_071732.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 211,
"cds_start": 413,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000243662.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022337.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB38",
"gene_hgnc_id": 9776,
"hgvs_c": "c.413A>T",
"hgvs_p": "p.Asn138Ile",
"transcript": "ENST00000243662.11",
"protein_id": "ENSP00000243662.5",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 211,
"cds_start": 413,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022337.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243662.11"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB38",
"gene_hgnc_id": 9776,
"hgvs_c": "c.413A>T",
"hgvs_p": "p.Asn138Ile",
"transcript": "ENST00000916357.1",
"protein_id": "ENSP00000586416.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 221,
"cds_start": 413,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916357.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB38",
"gene_hgnc_id": 9776,
"hgvs_c": "c.407A>T",
"hgvs_p": "p.Asn136Ile",
"transcript": "ENST00000526372.1",
"protein_id": "ENSP00000433317.1",
"transcript_support_level": 3,
"aa_start": 136,
"aa_end": null,
"aa_length": 209,
"cds_start": 407,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526372.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB38",
"gene_hgnc_id": 9776,
"hgvs_c": "c.413A>T",
"hgvs_p": "p.Asn138Ile",
"transcript": "XM_017017455.3",
"protein_id": "XP_016872944.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 177,
"cds_start": 413,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017455.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB38",
"gene_hgnc_id": 9776,
"hgvs_c": "c.413A>T",
"hgvs_p": "p.Asn138Ile",
"transcript": "XM_017017456.3",
"protein_id": "XP_016872945.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 177,
"cds_start": 413,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017456.3"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB38",
"gene_hgnc_id": 9776,
"hgvs_c": "c.250+25438A>T",
"hgvs_p": null,
"transcript": "ENST00000531138.1",
"protein_id": "ENSP00000435340.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": null,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531138.1"
}
],
"gene_symbol": "RAB38",
"gene_hgnc_id": 9776,
"dbsnp": "rs755523753",
"frequency_reference_population": 0.0000065706477,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8376624584197998,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.578,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2157,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.58,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022337.3",
"gene_symbol": "RAB38",
"hgnc_id": 9776,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.413A>T",
"hgvs_p": "p.Asn138Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}