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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: 17-59575400-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59575400&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59575400,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024612.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys",
"transcript": "NM_024612.5",
"protein_id": "NP_078888.4",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 779,
"cds_start": 902,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251241.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024612.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys",
"transcript": "ENST00000251241.9",
"protein_id": "ENSP00000251241.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 779,
"cds_start": 902,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024612.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251241.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys",
"transcript": "ENST00000930678.1",
"protein_id": "ENSP00000600737.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 779,
"cds_start": 902,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930678.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Tyr300Cys",
"transcript": "ENST00000930680.1",
"protein_id": "ENSP00000600739.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 778,
"cds_start": 899,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930680.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys",
"transcript": "ENST00000961853.1",
"protein_id": "ENSP00000631912.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 778,
"cds_start": 902,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961853.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys",
"transcript": "ENST00000930679.1",
"protein_id": "ENSP00000600738.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 764,
"cds_start": 902,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930679.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys",
"transcript": "ENST00000961854.1",
"protein_id": "ENSP00000631913.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 750,
"cds_start": 902,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961854.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Tyr261Cys",
"transcript": "ENST00000961857.1",
"protein_id": "ENSP00000631916.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 739,
"cds_start": 782,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961857.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Tyr252Cys",
"transcript": "ENST00000961856.1",
"protein_id": "ENSP00000631915.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 730,
"cds_start": 755,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961856.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Tyr250Cys",
"transcript": "ENST00000867586.1",
"protein_id": "ENSP00000537645.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 728,
"cds_start": 749,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867586.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys",
"transcript": "ENST00000961852.1",
"protein_id": "ENSP00000631911.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 718,
"cds_start": 902,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961852.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Tyr224Cys",
"transcript": "NM_001166301.2",
"protein_id": "NP_001159773.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 702,
"cds_start": 671,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166301.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Tyr224Cys",
"transcript": "ENST00000425628.7",
"protein_id": "ENSP00000388749.3",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 702,
"cds_start": 671,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425628.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.641A>G",
"hgvs_p": "p.Tyr214Cys",
"transcript": "ENST00000930681.1",
"protein_id": "ENSP00000600740.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 692,
"cds_start": 641,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930681.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Tyr185Cys",
"transcript": "ENST00000961855.1",
"protein_id": "ENSP00000631914.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 663,
"cds_start": 554,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961855.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys",
"transcript": "XM_006722083.4",
"protein_id": "XP_006722146.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 752,
"cds_start": 902,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722083.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.Tyr245Cys",
"transcript": "XM_017025080.3",
"protein_id": "XP_016880569.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 723,
"cds_start": 734,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025080.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys",
"transcript": "XM_011525253.4",
"protein_id": "XP_011523555.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 718,
"cds_start": 902,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525253.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.Tyr245Cys",
"transcript": "XM_047436758.1",
"protein_id": "XP_047292714.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 662,
"cds_start": 734,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"hgvs_c": "c.*36A>G",
"hgvs_p": null,
"transcript": "ENST00000580030.1",
"protein_id": "ENSP00000462686.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
"cds_end": null,
"cds_length": 806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580030.1"
}
],
"gene_symbol": "DHX40",
"gene_hgnc_id": 18018,
"dbsnp": "rs1331102900",
"frequency_reference_population": 0.000014272984,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000150765,
"gnomad_genomes_af": 0.00000656996,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5354877710342407,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.427,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8299,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.665,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_024612.5",
"gene_symbol": "DHX40",
"hgnc_id": 18018,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Tyr301Cys"
}
],
"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
}