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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: 10-122506740-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=122506740&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HTRA1",
"hgnc_id": 9476,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Gly276Glu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_002775.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9999,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.52,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9898406267166138,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1443,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002775.5",
"gene_hgnc_id": 9476,
"gene_symbol": "HTRA1",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Gly276Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368984.8",
"protein_coding": true,
"protein_id": "NP_002766.1",
"strand": true,
"transcript": "NM_002775.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1443,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368984.8",
"gene_hgnc_id": 9476,
"gene_symbol": "HTRA1",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Gly276Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002775.5",
"protein_coding": true,
"protein_id": "ENSP00000357980.3",
"strand": true,
"transcript": "ENST00000368984.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 481,
"aa_ref": "G",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1446,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869938.1",
"gene_hgnc_id": 9476,
"gene_symbol": "HTRA1",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Gly276Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539997.1",
"strand": true,
"transcript": "ENST00000869938.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 478,
"aa_ref": "G",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1437,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962536.1",
"gene_hgnc_id": 9476,
"gene_symbol": "HTRA1",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Gly274Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632595.1",
"strand": true,
"transcript": "ENST00000962536.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 448,
"aa_ref": "G",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1347,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869937.1",
"gene_hgnc_id": 9476,
"gene_symbol": "HTRA1",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Gly276Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539996.1",
"strand": true,
"transcript": "ENST00000869937.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 374,
"aa_ref": "G",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1125,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000648167.1",
"gene_hgnc_id": 9476,
"gene_symbol": "HTRA1",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Gly170Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498033.1",
"strand": true,
"transcript": "ENST00000648167.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 221,
"aa_ref": "G",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1214,
"cdna_start": 50,
"cds_end": null,
"cds_length": 666,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000420892.1",
"gene_hgnc_id": 9476,
"gene_symbol": "HTRA1",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Gly17Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412676.1",
"strand": true,
"transcript": "ENST00000420892.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 404,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": null,
"cds_end": null,
"cds_length": 1215,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962537.1",
"gene_hgnc_id": 9476,
"gene_symbol": "HTRA1",
"hgvs_c": "c.778-1916G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632596.1",
"strand": true,
"transcript": "ENST00000962537.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1554952277",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 9476,
"gene_symbol": "HTRA1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.723,
"pos": 122506740,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.893,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002775.5"
}
]
}