← 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: 13-23295441-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23295441&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23295441,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_000231.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.533delC",
"hgvs_p": "p.Ser178fs",
"transcript": "NM_000231.3",
"protein_id": "NP_000222.2",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 291,
"cds_start": 533,
"cds_end": null,
"cds_length": 876,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": "ENST00000218867.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.533delC",
"hgvs_p": "p.Ser178fs",
"transcript": "ENST00000218867.4",
"protein_id": "ENSP00000218867.3",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 291,
"cds_start": 533,
"cds_end": null,
"cds_length": 876,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": "NM_000231.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.587delC",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001378244.1",
"protein_id": "NP_001365173.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 309,
"cds_start": 587,
"cds_end": null,
"cds_length": 930,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.533delC",
"hgvs_p": "p.Ser178fs",
"transcript": "NM_001378245.1",
"protein_id": "NP_001365174.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 291,
"cds_start": 533,
"cds_end": null,
"cds_length": 876,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.533delC",
"hgvs_p": "p.Ser178fs",
"transcript": "NM_001378246.1",
"protein_id": "NP_001365175.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 291,
"cds_start": 533,
"cds_end": null,
"cds_length": 876,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.392delC",
"hgvs_p": "p.Ser131fs",
"transcript": "XM_047430542.1",
"protein_id": "XP_047286498.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 244,
"cds_start": 392,
"cds_end": null,
"cds_length": 735,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2186-6199delG",
"hgvs_p": null,
"transcript": "ENST00000683210.1",
"protein_id": "ENSP00000506739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"dbsnp": "rs1180551378",
"frequency_reference_population": 6.8409094e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84091e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.096,
"phylop100way_prediction": "Uncertain_significance",
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000231.3",
"gene_symbol": "SGCG",
"hgnc_id": 10809,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.533delC",
"hgvs_p": "p.Ser178fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000683210.1",
"gene_symbol": "SACS",
"hgnc_id": 10519,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2186-6199delG",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2C",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2C",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}