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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: 9-127695053-T-TTGATGATGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127695053&ref=T&alt=TTGATGATGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127695053,
"ref": "T",
"alt": "TTGATGATGA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000335223.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "HHHQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTRH1",
"gene_hgnc_id": 27039,
"hgvs_c": "c.285_293dupTCATCATCA",
"hgvs_p": "p.His95_His97dup",
"transcript": "ENST00000335223.5",
"protein_id": "ENSP00000493136.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 159,
"cds_start": 293,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335223.5"
},
{
"aa_ref": "N",
"aa_alt": "IIIN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTRH1",
"gene_hgnc_id": 27039,
"hgvs_c": "c.542_550dupTCATCATCA",
"hgvs_p": "p.Ile181_Ile183dup",
"transcript": "XM_047422774.1",
"protein_id": "XP_047278730.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 185,
"cds_start": 550,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422774.1"
},
{
"aa_ref": "N",
"aa_alt": "IIIN",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTRH1",
"gene_hgnc_id": 27039,
"hgvs_c": "c.386_394dupTCATCATCA",
"hgvs_p": "p.Ile129_Ile131dup",
"transcript": "XM_047422775.1",
"protein_id": "XP_047278731.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 133,
"cds_start": 394,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422775.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.*70_*78dupATGATGATG",
"hgvs_p": null,
"transcript": "NM_001374314.1",
"protein_id": "NP_001361243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.*70_*78dupATGATGATG",
"hgvs_p": null,
"transcript": "ENST00000636962.2",
"protein_id": "ENSP00000489762.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636962.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.*70_*78dupATGATGATG",
"hgvs_p": null,
"transcript": "ENST00000635950.2",
"protein_id": "ENSP00000490903.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000635950.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.*70_*78dupATGATGATG",
"hgvs_p": null,
"transcript": "ENST00000635950.2",
"protein_id": "ENSP00000490903.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000635950.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTRH1",
"gene_hgnc_id": 27039,
"hgvs_c": "c.-103_-95dupTCATCATCA",
"hgvs_p": null,
"transcript": "ENST00000641641.1",
"protein_id": "ENSP00000492921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 35,
"cds_start": null,
"cds_end": null,
"cds_length": 108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641641.1"
}
],
"gene_symbol": "PTRH1",
"gene_hgnc_id": 27039,
"dbsnp": "rs57076743",
"frequency_reference_population": 0.0144760115,
"hom_count_reference_population": 53,
"allele_count_reference_population": 9724,
"gnomad_exomes_af": 0.0146422,
"gnomad_genomes_af": 0.0138864,
"gnomad_exomes_ac": 7673,
"gnomad_genomes_ac": 2051,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.463,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BS1,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000335223.5",
"gene_symbol": "PTRH1",
"hgnc_id": 27039,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.285_293dupTCATCATCA",
"hgvs_p": "p.His95_His97dup"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001374314.1",
"gene_symbol": "STXBP1",
"hgnc_id": 11444,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*70_*78dupATGATGATG",
"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
}