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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: 1-46673147-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46673147&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46673147,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000334122.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX38",
"gene_hgnc_id": 29589,
"hgvs_c": "c.312T>G",
"hgvs_p": "p.Asp104Glu",
"transcript": "NM_001145474.4",
"protein_id": "NP_001138946.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 206,
"cds_start": 312,
"cds_end": null,
"cds_length": 621,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 840,
"mane_select": "ENST00000334122.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX38",
"gene_hgnc_id": 29589,
"hgvs_c": "c.312T>G",
"hgvs_p": "p.Asp104Glu",
"transcript": "ENST00000334122.5",
"protein_id": "ENSP00000455854.1",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 206,
"cds_start": 312,
"cds_end": null,
"cds_length": 621,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 840,
"mane_select": "NM_001145474.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX38",
"gene_hgnc_id": 29589,
"hgvs_c": "c.150T>G",
"hgvs_p": "p.Asp50Glu",
"transcript": "ENST00000564373.1",
"protein_id": "ENSP00000456524.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 152,
"cds_start": 150,
"cds_end": null,
"cds_length": 459,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX38",
"gene_hgnc_id": 29589,
"hgvs_c": "c.84T>G",
"hgvs_p": "p.Asp28Glu",
"transcript": "ENST00000415500.1",
"protein_id": "ENSP00000456892.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 130,
"cds_start": 84,
"cds_end": null,
"cds_length": 393,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX38",
"gene_hgnc_id": 29589,
"hgvs_c": "c.150T>G",
"hgvs_p": "p.Asp50Glu",
"transcript": "NM_001300863.2",
"protein_id": "NP_001287792.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 152,
"cds_start": 150,
"cds_end": null,
"cds_length": 459,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX38",
"gene_hgnc_id": 29589,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Asp105Glu",
"transcript": "ENST00000564071.1",
"protein_id": "ENSP00000457220.1",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
"aa_length": 138,
"cds_start": 315,
"cds_end": null,
"cds_length": 419,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX38",
"gene_hgnc_id": 29589,
"hgvs_c": "c.84T>G",
"hgvs_p": "p.Asp28Glu",
"transcript": "NM_001300864.2",
"protein_id": "NP_001287793.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 130,
"cds_start": 84,
"cds_end": null,
"cds_length": 393,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX38",
"gene_hgnc_id": 29589,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Asp105Glu",
"transcript": "XM_011541421.4",
"protein_id": "XP_011539723.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 207,
"cds_start": 315,
"cds_end": null,
"cds_length": 624,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "n.314+407A>C",
"hgvs_p": null,
"transcript": "ENST00000525633.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TEX38",
"gene_hgnc_id": 29589,
"dbsnp": "rs614486",
"frequency_reference_population": 0.30878413,
"hom_count_reference_population": 84751,
"allele_count_reference_population": 479023,
"gnomad_exomes_af": 0.298848,
"gnomad_genomes_af": 0.400288,
"gnomad_exomes_ac": 418200,
"gnomad_genomes_ac": 60823,
"gnomad_exomes_homalt": 70797,
"gnomad_genomes_homalt": 13954,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.97335973806912e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0656,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.045,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000334122.5",
"gene_symbol": "TEX38",
"hgnc_id": 29589,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.312T>G",
"hgvs_p": "p.Asp104Glu"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000525633.1",
"gene_symbol": "ATPAF1",
"hgnc_id": 18803,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.314+407A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}