← Back to variant description
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: X-1632709-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=1632709&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 1632709,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001171038.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.568T>C",
"hgvs_p": "p.Trp190Arg",
"transcript": "NM_001171038.2",
"protein_id": "NP_001164509.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 373,
"cds_start": 568,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": "ENST00000381241.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.568T>C",
"hgvs_p": "p.Trp190Arg",
"transcript": "ENST00000381241.9",
"protein_id": "ENSP00000370639.3",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 373,
"cds_start": 568,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": "NM_001171038.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.563-441T>C",
"hgvs_p": null,
"transcript": "ENST00000381229.9",
"protein_id": "ENSP00000370627.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.562+2770T>C",
"hgvs_p": null,
"transcript": "ENST00000381233.8",
"protein_id": "ENSP00000370631.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "n.289-3533T>C",
"hgvs_p": null,
"transcript": "ENST00000509780.6",
"protein_id": null,
"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": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.563-441T>C",
"hgvs_p": null,
"transcript": "NM_001416525.1",
"protein_id": "NP_001403454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.562+2770T>C",
"hgvs_p": null,
"transcript": "NM_001171039.1",
"protein_id": "NP_001164510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"dbsnp": "rs6588809",
"frequency_reference_population": 0.4428103,
"hom_count_reference_population": 78096,
"allele_count_reference_population": 108028,
"gnomad_exomes_af": 0.44403,
"gnomad_genomes_af": 0.442069,
"gnomad_exomes_ac": 40944,
"gnomad_genomes_ac": 67084,
"gnomad_exomes_homalt": 9184,
"gnomad_genomes_homalt": 14465,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000019969216737081297,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.109,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001171038.2",
"gene_symbol": "ASMT",
"hgnc_id": 750,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.568T>C",
"hgvs_p": "p.Trp190Arg"
}
],
"clinvar_disease": "ASMT-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ASMT-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}