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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: 22-40411472-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40411472&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 40411472,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_020831.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.3013delC",
"hgvs_p": "p.Leu1005fs",
"transcript": "NM_020831.6",
"protein_id": "NP_065882.2",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1031,
"cds_start": 3013,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355630.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020831.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.3013delC",
"hgvs_p": "p.Leu1005fs",
"transcript": "ENST00000355630.10",
"protein_id": "ENSP00000347847.5",
"transcript_support_level": 1,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1031,
"cds_start": 3013,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020831.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355630.10"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.2863delC",
"hgvs_p": "p.Leu955fs",
"transcript": "ENST00000402042.7",
"protein_id": "ENSP00000385584.3",
"transcript_support_level": 1,
"aa_start": 955,
"aa_end": null,
"aa_length": 981,
"cds_start": 2863,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402042.7"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.2713delC",
"hgvs_p": "p.Leu905fs",
"transcript": "ENST00000407029.7",
"protein_id": "ENSP00000385835.1",
"transcript_support_level": 1,
"aa_start": 905,
"aa_end": null,
"aa_length": 931,
"cds_start": 2713,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407029.7"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.2863delC",
"hgvs_p": "p.Leu955fs",
"transcript": "NM_001282661.3",
"protein_id": "NP_001269590.2",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 981,
"cds_start": 2863,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282661.3"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.2818delC",
"hgvs_p": "p.Leu940fs",
"transcript": "NM_001318139.2",
"protein_id": "NP_001305068.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 966,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318139.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.2818delC",
"hgvs_p": "p.Leu940fs",
"transcript": "ENST00000652095.2",
"protein_id": "ENSP00000498671.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 966,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652095.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.2713delC",
"hgvs_p": "p.Leu905fs",
"transcript": "NM_001282660.2",
"protein_id": "NP_001269589.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 931,
"cds_start": 2713,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282660.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.2566delC",
"hgvs_p": "p.Leu856fs",
"transcript": "ENST00000620651.4",
"protein_id": "ENSP00000478420.1",
"transcript_support_level": 5,
"aa_start": 856,
"aa_end": null,
"aa_length": 882,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620651.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.*326delC",
"hgvs_p": null,
"transcript": "NM_001282662.3",
"protein_id": "NP_001269591.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": null,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282662.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.*326delC",
"hgvs_p": null,
"transcript": "ENST00000651595.2",
"protein_id": "ENSP00000498277.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": null,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651595.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"hgvs_c": "c.*326delC",
"hgvs_p": null,
"transcript": "ENST00000614754.4",
"protein_id": "ENSP00000484786.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": null,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614754.4"
}
],
"gene_symbol": "MRTFA",
"gene_hgnc_id": 14334,
"dbsnp": "rs752111993",
"frequency_reference_population": 6.8819145e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88191e-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": 7.673,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020831.6",
"gene_symbol": "MRTFA",
"hgnc_id": 14334,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.3013delC",
"hgvs_p": "p.Leu1005fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}