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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: 19-39825806-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39825806&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 39825806,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004714.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"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.1799G>C",
"hgvs_p": "p.Arg600Pro",
"transcript": "NM_004714.3",
"protein_id": "NP_004705.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 629,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323039.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004714.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1799G>C",
"hgvs_p": "p.Arg600Pro",
"transcript": "ENST00000323039.10",
"protein_id": "ENSP00000312789.4",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 629,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004714.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323039.10"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1979G>C",
"hgvs_p": "p.Arg660Pro",
"transcript": "ENST00000593685.5",
"protein_id": "ENSP00000469863.2",
"transcript_support_level": 5,
"aa_start": 660,
"aa_end": null,
"aa_length": 689,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593685.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1715G>C",
"hgvs_p": "p.Arg572Pro",
"transcript": "NM_006484.3",
"protein_id": "NP_006475.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 601,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006484.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1715G>C",
"hgvs_p": "p.Arg572Pro",
"transcript": "ENST00000348817.7",
"protein_id": "ENSP00000221803.4",
"transcript_support_level": 5,
"aa_start": 572,
"aa_end": null,
"aa_length": 601,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348817.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1715G>C",
"hgvs_p": "p.Arg572Pro",
"transcript": "ENST00000597639.5",
"protein_id": "ENSP00000472941.1",
"transcript_support_level": 5,
"aa_start": 572,
"aa_end": null,
"aa_length": 601,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597639.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1679G>C",
"hgvs_p": "p.Arg560Pro",
"transcript": "NM_006483.3",
"protein_id": "NP_006474.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 589,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006483.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1679G>C",
"hgvs_p": "p.Arg560Pro",
"transcript": "ENST00000430012.6",
"protein_id": "ENSP00000403182.1",
"transcript_support_level": 5,
"aa_start": 560,
"aa_end": null,
"aa_length": 589,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430012.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1979G>C",
"hgvs_p": "p.Arg660Pro",
"transcript": "XM_047439667.1",
"protein_id": "XP_047295623.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 689,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439667.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1895G>C",
"hgvs_p": "p.Arg632Pro",
"transcript": "XM_047439668.1",
"protein_id": "XP_047295624.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 661,
"cds_start": 1895,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439668.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1859G>C",
"hgvs_p": "p.Arg620Pro",
"transcript": "XM_047439669.1",
"protein_id": "XP_047295625.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 649,
"cds_start": 1859,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439669.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.1799G>C",
"hgvs_p": "p.Arg600Pro",
"transcript": "XM_005259398.5",
"protein_id": "XP_005259455.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 629,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259398.5"
}
],
"gene_symbol": "DYRK1B",
"gene_hgnc_id": 3092,
"dbsnp": "rs1442897061",
"frequency_reference_population": 6.945911e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.94591e-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": 0.21548134088516235,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.1017,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.356,
"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_004714.3",
"gene_symbol": "DYRK1B",
"hgnc_id": 3092,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1799G>C",
"hgvs_p": "p.Arg600Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}