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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: 19-39825795-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39825795&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 39825795,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000323039.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Pro604Ser",
"transcript": "NM_004714.3",
"protein_id": "NP_004705.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 629,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": "ENST00000323039.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Pro604Ser",
"transcript": "ENST00000323039.10",
"protein_id": "ENSP00000312789.4",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 629,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": "NM_004714.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1990C>T",
"hgvs_p": "p.Pro664Ser",
"transcript": "ENST00000593685.5",
"protein_id": "ENSP00000469863.2",
"transcript_support_level": 5,
"aa_start": 664,
"aa_end": null,
"aa_length": 689,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Pro576Ser",
"transcript": "NM_006484.3",
"protein_id": "NP_006475.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 601,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Pro576Ser",
"transcript": "ENST00000348817.7",
"protein_id": "ENSP00000221803.4",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 601,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Pro576Ser",
"transcript": "ENST00000597639.5",
"protein_id": "ENSP00000472941.1",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 601,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Pro564Ser",
"transcript": "NM_006483.3",
"protein_id": "NP_006474.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 589,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Pro564Ser",
"transcript": "ENST00000430012.6",
"protein_id": "ENSP00000403182.1",
"transcript_support_level": 5,
"aa_start": 564,
"aa_end": null,
"aa_length": 589,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1990C>T",
"hgvs_p": "p.Pro664Ser",
"transcript": "XM_047439667.1",
"protein_id": "XP_047295623.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 689,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Pro636Ser",
"transcript": "XM_047439668.1",
"protein_id": "XP_047295624.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 661,
"cds_start": 1906,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Pro624Ser",
"transcript": "XM_047439669.1",
"protein_id": "XP_047295625.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 649,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Pro604Ser",
"transcript": "XM_005259398.5",
"protein_id": "XP_005259455.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 629,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"dbsnp": "rs1436016846",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15067681670188904,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.082,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.033,
"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": "ENST00000323039.10",
"gene_symbol": "DYRK1B",
"hgnc_id": 3092,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Pro604Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}