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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: 16-30925767-A-AGCCGGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30925767&ref=A&alt=AGCCGGGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30925767,
"ref": "A",
"alt": "AGCCGGGG",
"effect": "frameshift_variant",
"transcript": "NM_001099784.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "GGR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.26_32dupGGGCCGG",
"hgvs_p": "p.Ala12fs",
"transcript": "NM_001382779.1",
"protein_id": "NP_001369708.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 674,
"cds_start": 33,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338343.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382779.1"
},
{
"aa_ref": "G",
"aa_alt": "GGR?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.26_32dupGGGCCGG",
"hgvs_p": "p.Ala12fs",
"transcript": "ENST00000338343.10",
"protein_id": "ENSP00000339712.4",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 674,
"cds_start": 33,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382779.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338343.10"
},
{
"aa_ref": "G",
"aa_alt": "GGR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.86_92dupGGGCCGG",
"hgvs_p": "p.Ala32fs",
"transcript": "NM_001099784.3",
"protein_id": "NP_001093254.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 694,
"cds_start": 93,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099784.3"
},
{
"aa_ref": "G",
"aa_alt": "GGR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.86_92dupGGGCCGG",
"hgvs_p": "p.Ala32fs",
"transcript": "ENST00000562319.7",
"protein_id": "ENSP00000455529.2",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 694,
"cds_start": 93,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562319.7"
},
{
"aa_ref": "G",
"aa_alt": "GGR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.92_98dupGGGCCGG",
"hgvs_p": "p.Ala34fs",
"transcript": "NM_001382780.1",
"protein_id": "NP_001369709.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 653,
"cds_start": 99,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382780.1"
},
{
"aa_ref": "G",
"aa_alt": "GGR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.26_32dupGGGCCGG",
"hgvs_p": "p.Ala12fs",
"transcript": "NM_001382781.1",
"protein_id": "NP_001369710.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 631,
"cds_start": 33,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382781.1"
},
{
"aa_ref": "G",
"aa_alt": "GGR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.26_32dupGGGCCGG",
"hgvs_p": "p.Ala12fs",
"transcript": "ENST00000565690.5",
"protein_id": "ENSP00000454344.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 558,
"cds_start": 33,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565690.5"
},
{
"aa_ref": "G",
"aa_alt": "GGR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.92_98dupGGGCCGG",
"hgvs_p": "p.Ala34fs",
"transcript": "ENST00000562798.2",
"protein_id": "ENSP00000455871.2",
"transcript_support_level": 4,
"aa_start": 33,
"aa_end": null,
"aa_length": 80,
"cds_start": 99,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562798.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.-853_-847dupGGGCCGG",
"hgvs_p": null,
"transcript": "NM_001282351.1",
"protein_id": "NP_001269280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": null,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.-853_-847dupGGGCCGG",
"hgvs_p": null,
"transcript": "ENST00000471231.6",
"protein_id": "ENSP00000458033.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": null,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471231.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"hgvs_c": "c.-126_-125insGCCGGGG",
"hgvs_p": null,
"transcript": "ENST00000427128.5",
"protein_id": "ENSP00000397913.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": null,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427128.5"
}
],
"gene_symbol": "FBXL19",
"gene_hgnc_id": 25300,
"dbsnp": "rs2055582969",
"frequency_reference_population": 0.0000015015894,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000150159,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"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": 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": 4.696,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_001099784.3",
"gene_symbol": "FBXL19",
"hgnc_id": 25300,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.86_92dupGGGCCGG",
"hgvs_p": "p.Ala32fs"
}
],
"clinvar_disease": "Neurodevelopmental delay",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neurodevelopmental delay",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}