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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: 2-73601440-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73601440&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73601440,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000613296.6",
"consequences": [
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.12114+4C>T",
"hgvs_p": null,
"transcript": "NM_001378454.1",
"protein_id": "NP_001365383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4168,
"cds_start": -4,
"cds_end": null,
"cds_length": 12507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12844,
"mane_select": "ENST00000613296.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.12114+4C>T",
"hgvs_p": null,
"transcript": "ENST00000613296.6",
"protein_id": "ENSP00000482968.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4168,
"cds_start": -4,
"cds_end": null,
"cds_length": 12507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12844,
"mane_select": "NM_001378454.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.11988+4C>T",
"hgvs_p": null,
"transcript": "ENST00000484298.5",
"protein_id": "ENSP00000478155.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4126,
"cds_start": -4,
"cds_end": null,
"cds_length": 12381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.12114+4C>T",
"hgvs_p": null,
"transcript": "NM_015120.4",
"protein_id": "NP_055935.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4168,
"cds_start": -4,
"cds_end": null,
"cds_length": 12507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.11733+4C>T",
"hgvs_p": null,
"transcript": "ENST00000684548.1",
"protein_id": "ENSP00000507421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4065,
"cds_start": -4,
"cds_end": null,
"cds_length": 12198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.11733+4C>T",
"hgvs_p": null,
"transcript": "ENST00000682859.1",
"protein_id": "ENSP00000508222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4041,
"cds_start": -4,
"cds_end": null,
"cds_length": 12126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12427,
"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": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.11167-745C>T",
"hgvs_p": null,
"transcript": "ENST00000682801.1",
"protein_id": "ENSP00000507862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3852,
"cds_start": -4,
"cds_end": null,
"cds_length": 11559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.9012+4C>T",
"hgvs_p": null,
"transcript": "ENST00000684460.1",
"protein_id": "ENSP00000506991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3134,
"cds_start": -4,
"cds_end": null,
"cds_length": 9405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.6180+4C>T",
"hgvs_p": null,
"transcript": "ENST00000684590.1",
"protein_id": "ENSP00000507376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2190,
"cds_start": -4,
"cds_end": null,
"cds_length": 6573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.2268+4C>T",
"hgvs_p": null,
"transcript": "ENST00000651057.1",
"protein_id": "ENSP00000498504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": -4,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.289+4C>T",
"hgvs_p": null,
"transcript": "ENST00000464408.3",
"protein_id": null,
"transcript_support_level": 5,
"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": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.5917+4C>T",
"hgvs_p": null,
"transcript": "ENST00000620466.4",
"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": 6720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.*2533+4C>T",
"hgvs_p": null,
"transcript": "ENST00000651434.1",
"protein_id": "ENSP00000498259.1",
"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": 4537,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.1258+559C>T",
"hgvs_p": null,
"transcript": "ENST00000651750.1",
"protein_id": "ENSP00000498307.1",
"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": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.*581+4C>T",
"hgvs_p": null,
"transcript": "ENST00000652487.1",
"protein_id": "ENSP00000499118.1",
"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": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.11733+4C>T",
"hgvs_p": null,
"transcript": "ENST00000682565.1",
"protein_id": "ENSP00000507671.1",
"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": 12428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.*4169+4C>T",
"hgvs_p": null,
"transcript": "ENST00000683791.1",
"protein_id": "ENSP00000506916.1",
"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": 5497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.*622+4C>T",
"hgvs_p": null,
"transcript": "ENST00000684656.1",
"protein_id": "ENSP00000508012.1",
"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": 9858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"dbsnp": "rs373191489",
"frequency_reference_population": 0.000025406222,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000171051,
"gnomad_genomes_af": 0.00010511,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.675,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000613296.6",
"gene_symbol": "ALMS1",
"hgnc_id": 428,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.12114+4C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Alstrom syndrome,Cardiovascular phenotype",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Alstrom syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}