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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: 19-4941619-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4941619&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4941619,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013282.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "NM_001048201.3",
"protein_id": "NP_001041666.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 793,
"cds_start": 877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650932.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001048201.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "ENST00000650932.1",
"protein_id": "ENSP00000498698.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 793,
"cds_start": 877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001048201.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650932.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.1069C>A",
"hgvs_p": "p.Pro357Thr",
"transcript": "ENST00000620565.4",
"protein_id": "ENSP00000478171.1",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 857,
"cds_start": 1069,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620565.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Pro306Thr",
"transcript": "ENST00000622802.4",
"protein_id": "ENSP00000479617.1",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 806,
"cds_start": 916,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622802.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "ENST00000612630.4",
"protein_id": "ENSP00000484739.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 793,
"cds_start": 877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612630.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "ENST00000616255.1",
"protein_id": "ENSP00000478348.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 793,
"cds_start": 877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616255.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "ENST00000624301.3",
"protein_id": "ENSP00000485604.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 793,
"cds_start": 877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624301.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Pro306Thr",
"transcript": "NM_013282.5",
"protein_id": "NP_037414.3",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 806,
"cds_start": 916,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013282.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "NM_001290050.2",
"protein_id": "NP_001276979.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 793,
"cds_start": 877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290050.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "NM_001290051.2",
"protein_id": "NP_001276980.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 793,
"cds_start": 877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290051.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "NM_001290052.2",
"protein_id": "NP_001276981.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 793,
"cds_start": 877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290052.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "ENST00000615884.4",
"protein_id": "ENSP00000478601.1",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 793,
"cds_start": 877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615884.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "ENST00000932712.1",
"protein_id": "ENSP00000602771.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 791,
"cds_start": 877,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932712.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "ENST00000932713.1",
"protein_id": "ENSP00000602772.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 791,
"cds_start": 877,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932713.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "ENST00000932714.1",
"protein_id": "ENSP00000602773.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 722,
"cds_start": 877,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932714.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Pro306Thr",
"transcript": "XM_047438708.1",
"protein_id": "XP_047294664.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 771,
"cds_start": 916,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438708.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "XM_011527942.2",
"protein_id": "XP_011526244.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 758,
"cds_start": 877,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527942.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "XM_047438707.1",
"protein_id": "XP_047294663.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 758,
"cds_start": 877,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438707.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.877C>A",
"hgvs_p": "p.Pro293Thr",
"transcript": "XM_047438709.1",
"protein_id": "XP_047294665.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 758,
"cds_start": 877,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438709.1"
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.786-2513C>A",
"hgvs_p": null,
"transcript": "ENST00000953728.1",
"protein_id": "ENSP00000623787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": null,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953728.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"hgvs_c": "c.159-289C>A",
"hgvs_p": null,
"transcript": "ENST00000613817.4",
"protein_id": "ENSP00000480214.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613817.4"
}
],
"gene_symbol": "UHRF1",
"gene_hgnc_id": 12556,
"dbsnp": "rs760781095",
"frequency_reference_population": 6.844674e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84467e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15997791290283203,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.2384,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.489,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013282.5",
"gene_symbol": "UHRF1",
"hgnc_id": 12556,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Pro306Thr"
}
],
"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
}