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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: 20-46043275-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46043275&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46043275,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000243964.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.1189A>T",
"hgvs_p": "p.Thr397Ser",
"transcript": "NM_020708.5",
"protein_id": "NP_065759.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 1116,
"cds_start": 1189,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "ENST00000243964.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.1189A>T",
"hgvs_p": "p.Thr397Ser",
"transcript": "ENST00000243964.7",
"protein_id": "ENSP00000243964.4",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 1116,
"cds_start": 1189,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "NM_020708.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.612+5890A>T",
"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": -4,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.509+5993A>T",
"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": -4,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Thr420Ser",
"transcript": "NM_001134771.2",
"protein_id": "NP_001128243.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1258,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Thr420Ser",
"transcript": "ENST00000454036.6",
"protein_id": "ENSP00000387694.1",
"transcript_support_level": 5,
"aa_start": 420,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1258,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "n.83A>T",
"hgvs_p": null,
"transcript": "ENST00000608594.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.*507A>T",
"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": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "n.510-2603A>T",
"hgvs_p": null,
"transcript": "ENST00000539566.3",
"protein_id": "ENSP00000446091.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"dbsnp": "rs34058554",
"frequency_reference_population": 0.00090044865,
"hom_count_reference_population": 16,
"allele_count_reference_population": 1453,
"gnomad_exomes_af": 0.000484998,
"gnomad_genomes_af": 0.0049019,
"gnomad_exomes_ac": 709,
"gnomad_genomes_ac": 744,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007649242877960205,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.1373,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.037,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000243964.7",
"gene_symbol": "SLC12A5",
"hgnc_id": 13818,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1189A>T",
"hgvs_p": "p.Thr397Ser"
}
],
"clinvar_disease": " 34,Developmental and epileptic encephalopathy,SLC12A5-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "SLC12A5-related disorder|not provided|Developmental and epileptic encephalopathy, 34",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}