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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: 19-51713470-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51713470&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51713470,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001523.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAS1",
"gene_hgnc_id": 4818,
"hgvs_c": "c.1691G>A",
"hgvs_p": "p.Arg564Lys",
"transcript": "NM_001297436.2",
"protein_id": "NP_001284365.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 577,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000540069.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297436.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAS1",
"gene_hgnc_id": 4818,
"hgvs_c": "c.1691G>A",
"hgvs_p": "p.Arg564Lys",
"transcript": "ENST00000540069.7",
"protein_id": "ENSP00000445021.2",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 577,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001297436.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540069.7"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAS1",
"gene_hgnc_id": 4818,
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Arg572Lys",
"transcript": "ENST00000601714.5",
"protein_id": "ENSP00000472821.1",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 585,
"cds_start": 1715,
"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": "ENST00000601714.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAS1",
"gene_hgnc_id": 4818,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565Lys",
"transcript": "ENST00000222115.5",
"protein_id": "ENSP00000222115.1",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 578,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222115.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAS1",
"gene_hgnc_id": 4818,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565Lys",
"transcript": "NM_001523.4",
"protein_id": "NP_001514.2",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 578,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001523.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAS1",
"gene_hgnc_id": 4818,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Arg529Lys",
"transcript": "ENST00000964524.1",
"protein_id": "ENSP00000634583.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 542,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAS1",
"gene_hgnc_id": 4818,
"hgvs_c": "c.*574G>A",
"hgvs_p": null,
"transcript": "XM_011526884.3",
"protein_id": "XP_011525186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526884.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAS1",
"gene_hgnc_id": 4818,
"hgvs_c": "c.*574G>A",
"hgvs_p": null,
"transcript": "XM_047438719.1",
"protein_id": "XP_047294675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438719.1"
}
],
"gene_symbol": "HAS1",
"gene_hgnc_id": 4818,
"dbsnp": "rs751148168",
"frequency_reference_population": 0.00010989994,
"hom_count_reference_population": 0,
"allele_count_reference_population": 172,
"gnomad_exomes_af": 0.000106171,
"gnomad_genomes_af": 0.000144505,
"gnomad_exomes_ac": 150,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09656336903572083,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.172,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.442,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001523.4",
"gene_symbol": "HAS1",
"hgnc_id": 4818,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}