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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: 14-24082625-A-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24082625&ref=A&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24082625,
"ref": "A",
"alt": "AG",
"effect": "frameshift_variant",
"transcript": "ENST00000561028.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.223dupC",
"hgvs_p": "p.Leu75fs",
"transcript": "NM_001354768.3",
"protein_id": "NP_001341697.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 237,
"cds_start": 223,
"cds_end": null,
"cds_length": 714,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "ENST00000561028.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.223dupC",
"hgvs_p": "p.Leu75fs",
"transcript": "ENST00000561028.6",
"protein_id": "ENSP00000454062.2",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 237,
"cds_start": 223,
"cds_end": null,
"cds_length": 714,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "NM_001354768.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.223dupC",
"hgvs_p": "p.Leu75fs",
"transcript": "ENST00000396997.1",
"protein_id": "ENSP00000380193.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 237,
"cds_start": 223,
"cds_end": null,
"cds_length": 714,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.223dupC",
"hgvs_p": "p.Leu75fs",
"transcript": "ENST00000397002.6",
"protein_id": "ENSP00000380197.2",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 237,
"cds_start": 223,
"cds_end": null,
"cds_length": 714,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.223dupC",
"hgvs_p": "p.Leu75fs",
"transcript": "NM_001354769.1",
"protein_id": "NP_001341698.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 237,
"cds_start": 223,
"cds_end": null,
"cds_length": 714,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.223dupC",
"hgvs_p": "p.Leu75fs",
"transcript": "NM_006177.5",
"protein_id": "NP_006168.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 237,
"cds_start": 223,
"cds_end": null,
"cds_length": 714,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.529dupC",
"hgvs_p": "p.Leu177fs",
"transcript": "XM_011536801.3",
"protein_id": "XP_011535103.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 339,
"cds_start": 529,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.223dupC",
"hgvs_p": "p.Leu75fs",
"transcript": "XM_011536805.3",
"protein_id": "XP_011535107.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 237,
"cds_start": 223,
"cds_end": null,
"cds_length": 714,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 3455,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.66+157dupC",
"hgvs_p": null,
"transcript": "NM_001354770.2",
"protein_id": "NP_001341699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3190,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.372+157dupC",
"hgvs_p": null,
"transcript": "XM_011536806.3",
"protein_id": "XP_011535108.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.*28dupC",
"hgvs_p": null,
"transcript": "ENST00000558280.1",
"protein_id": "ENSP00000454180.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": -4,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"dbsnp": "rs763191889",
"frequency_reference_population": 0.0000099143035,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102624,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"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": 0.787,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000561028.6",
"gene_symbol": "NRL",
"hgnc_id": 8002,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.223dupC",
"hgvs_p": "p.Leu75fs"
}
],
"clinvar_disease": " autosomal recessive, clumped pigment type,Retinal degeneration,Retinitis pigmentosa 27,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Retinal degeneration, autosomal recessive, clumped pigment type|not provided|Retinitis pigmentosa 27",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}