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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: 13-95034701-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95034701&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95034701,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000645237.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3774G>A",
"hgvs_p": "p.Pro1258Pro",
"transcript": "NM_005845.5",
"protein_id": "NP_005836.2",
"transcript_support_level": null,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3774,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3911,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": "ENST00000645237.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3774G>A",
"hgvs_p": "p.Pro1258Pro",
"transcript": "ENST00000645237.2",
"protein_id": "ENSP00000494609.1",
"transcript_support_level": null,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3774,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3911,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": "NM_005845.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3633G>A",
"hgvs_p": "p.Pro1211Pro",
"transcript": "NM_001301829.2",
"protein_id": "NP_001288758.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3633,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3770,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3633G>A",
"hgvs_p": "p.Pro1211Pro",
"transcript": "ENST00000646439.1",
"protein_id": "ENSP00000494751.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3633,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3638,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3645G>A",
"hgvs_p": "p.Pro1215Pro",
"transcript": "XM_047430034.1",
"protein_id": "XP_047285990.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3645,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3807,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.3225G>A",
"hgvs_p": "p.Pro1075Pro",
"transcript": "XM_047430035.1",
"protein_id": "XP_047285991.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3225,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 4018,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.644G>A",
"hgvs_p": null,
"transcript": "ENST00000471041.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*1685G>A",
"hgvs_p": null,
"transcript": "ENST00000643051.1",
"protein_id": "ENSP00000495513.1",
"transcript_support_level": null,
"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": 6171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*3820G>A",
"hgvs_p": null,
"transcript": "ENST00000643842.1",
"protein_id": "ENSP00000493861.1",
"transcript_support_level": null,
"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": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*1685G>A",
"hgvs_p": null,
"transcript": "ENST00000643051.1",
"protein_id": "ENSP00000495513.1",
"transcript_support_level": null,
"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": 6171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*3820G>A",
"hgvs_p": null,
"transcript": "ENST00000643842.1",
"protein_id": "ENSP00000493861.1",
"transcript_support_level": null,
"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": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"dbsnp": "rs11568704",
"frequency_reference_population": 0.0019384767,
"hom_count_reference_population": 48,
"allele_count_reference_population": 3129,
"gnomad_exomes_af": 0.00110748,
"gnomad_genomes_af": 0.00991581,
"gnomad_exomes_ac": 1619,
"gnomad_genomes_ac": 1510,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 31,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.859,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000645237.2",
"gene_symbol": "ABCC4",
"hgnc_id": 55,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3774G>A",
"hgvs_p": "p.Pro1258Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}