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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: 14-69054057-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=69054057&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 69054057,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003861.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2629A>C",
"hgvs_p": "p.Thr877Pro",
"transcript": "NM_003861.3",
"protein_id": "NP_003852.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 942,
"cds_start": 2629,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341516.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003861.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2629A>C",
"hgvs_p": "p.Thr877Pro",
"transcript": "ENST00000341516.10",
"protein_id": "ENSP00000341351.5",
"transcript_support_level": 1,
"aa_start": 877,
"aa_end": null,
"aa_length": 942,
"cds_start": 2629,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003861.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341516.10"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2626A>C",
"hgvs_p": "p.Thr876Pro",
"transcript": "ENST00000557386.5",
"protein_id": "ENSP00000451845.1",
"transcript_support_level": 1,
"aa_start": 876,
"aa_end": null,
"aa_length": 941,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557386.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2383A>C",
"hgvs_p": "p.Thr795Pro",
"transcript": "ENST00000554215.5",
"protein_id": "ENSP00000451551.1",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 860,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554215.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2626A>C",
"hgvs_p": "p.Thr876Pro",
"transcript": "NM_001284206.1",
"protein_id": "NP_001271135.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 941,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284206.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2452A>C",
"hgvs_p": "p.Thr818Pro",
"transcript": "ENST00000867406.1",
"protein_id": "ENSP00000537465.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 883,
"cds_start": 2452,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867406.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2383A>C",
"hgvs_p": "p.Thr795Pro",
"transcript": "NM_001284207.1",
"protein_id": "NP_001271136.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 860,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284207.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2383A>C",
"hgvs_p": "p.Thr795Pro",
"transcript": "ENST00000556847.5",
"protein_id": "ENSP00000452052.1",
"transcript_support_level": 5,
"aa_start": 795,
"aa_end": null,
"aa_length": 860,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556847.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2308A>C",
"hgvs_p": "p.Thr770Pro",
"transcript": "ENST00000927898.1",
"protein_id": "ENSP00000597957.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 835,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927898.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.1999A>C",
"hgvs_p": "p.Thr667Pro",
"transcript": "ENST00000954556.1",
"protein_id": "ENSP00000624615.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 732,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954556.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2734A>C",
"hgvs_p": "p.Thr912Pro",
"transcript": "XM_006720297.3",
"protein_id": "XP_006720360.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 977,
"cds_start": 2734,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720297.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2731A>C",
"hgvs_p": "p.Thr911Pro",
"transcript": "XM_006720298.3",
"protein_id": "XP_006720361.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 976,
"cds_start": 2731,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720298.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2488A>C",
"hgvs_p": "p.Thr830Pro",
"transcript": "XM_006720299.4",
"protein_id": "XP_006720362.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 895,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720299.4"
},
{
"aa_ref": "T",
"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": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2488A>C",
"hgvs_p": "p.Thr830Pro",
"transcript": "XM_011537278.2",
"protein_id": "XP_011535580.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 895,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537278.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2488A>C",
"hgvs_p": "p.Thr830Pro",
"transcript": "XM_011537279.3",
"protein_id": "XP_011535581.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 895,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537279.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2488A>C",
"hgvs_p": "p.Thr830Pro",
"transcript": "XM_017021733.2",
"protein_id": "XP_016877222.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 895,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021733.2"
},
{
"aa_ref": "T",
"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": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2488A>C",
"hgvs_p": "p.Thr830Pro",
"transcript": "XM_047431846.1",
"protein_id": "XP_047287802.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 895,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431846.1"
},
{
"aa_ref": "T",
"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": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2488A>C",
"hgvs_p": "p.Thr830Pro",
"transcript": "XM_047431847.1",
"protein_id": "XP_047287803.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 895,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431847.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.2083A>C",
"hgvs_p": "p.Thr695Pro",
"transcript": "XM_011537280.4",
"protein_id": "XP_011535582.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 760,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537280.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"hgvs_c": "c.1978A>C",
"hgvs_p": "p.Thr660Pro",
"transcript": "XM_017021737.2",
"protein_id": "XP_016877226.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 725,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021737.2"
}
],
"gene_symbol": "DCAF5",
"gene_hgnc_id": 20224,
"dbsnp": "rs2037852520",
"frequency_reference_population": 0.0000013682474,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136825,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08132332563400269,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.0666,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.375,
"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_003861.3",
"gene_symbol": "DCAF5",
"hgnc_id": 20224,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2629A>C",
"hgvs_p": "p.Thr877Pro"
}
],
"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
}