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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: 20-46057166-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46057166&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46057166,
"ref": "G",
"alt": "GC",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_001134771.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.3126-3dupC",
"hgvs_p": null,
"transcript": "NM_020708.5",
"protein_id": "NP_065759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1116,
"cds_start": null,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "ENST00000243964.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020708.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.3126-4_3126-3insC",
"hgvs_p": null,
"transcript": "ENST00000243964.7",
"protein_id": "ENSP00000243964.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1116,
"cds_start": null,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "NM_020708.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243964.7"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.613-1315_613-1314insC",
"hgvs_p": null,
"transcript": "ENST00000616202.4",
"protein_id": "ENSP00000478369.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616202.4"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.510-2433_510-2432insC",
"hgvs_p": null,
"transcript": "ENST00000626937.2",
"protein_id": "ENSP00000485953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": null,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626937.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.3195-3dupC",
"hgvs_p": null,
"transcript": "NM_001134771.2",
"protein_id": "NP_001128243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1139,
"cds_start": null,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134771.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.3195-4_3195-3insC",
"hgvs_p": null,
"transcript": "ENST00000454036.6",
"protein_id": "ENSP00000387694.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1139,
"cds_start": null,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454036.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.*2444-4_*2444-3insC",
"hgvs_p": null,
"transcript": "ENST00000616933.4",
"protein_id": "ENSP00000477569.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616933.4"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.-68_-67insC",
"hgvs_p": null,
"transcript": "ENST00000637437.1",
"protein_id": "ENSP00000490442.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 23,
"cds_start": null,
"cds_end": null,
"cds_length": 72,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637437.1"
}
],
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"dbsnp": "rs767708918",
"frequency_reference_population": 0.00007001291,
"hom_count_reference_population": 1,
"allele_count_reference_population": 113,
"gnomad_exomes_af": 0.0000314697,
"gnomad_genomes_af": 0.000440025,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 67,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"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": 3.477,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PVS1_Moderate,BP6,BS1",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate",
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001134771.2",
"gene_symbol": "SLC12A5",
"hgnc_id": 13818,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3195-3dupC",
"hgvs_p": null
}
],
"clinvar_disease": " 34,Developmental and epileptic encephalopathy,SLC12A5-related disorder,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 34|not specified|SLC12A5-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}