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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: 16-72112484-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72112484&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DHX38",
"hgnc_id": 17211,
"hgvs_c": "c.3671G>T",
"hgvs_p": "p.Arg1224Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_014003.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "PMFBP1",
"hgnc_id": 17728,
"hgvs_c": "c.*277C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000537792.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.5557,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.730528712272644,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "R",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4323,
"cdna_start": 3895,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3671,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_014003.4",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3671G>T",
"hgvs_p": "p.Arg1224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268482.8",
"protein_coding": true,
"protein_id": "NP_054722.2",
"strand": true,
"transcript": "NM_014003.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "R",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4323,
"cdna_start": 3895,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3671,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000268482.8",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3671G>T",
"hgvs_p": "p.Arg1224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014003.4",
"protein_coding": true,
"protein_id": "ENSP00000268482.3",
"strand": true,
"transcript": "ENST00000268482.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 1250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4396,
"cdna_start": 3973,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3749,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000904787.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3749G>T",
"hgvs_p": "p.Arg1250Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574846.1",
"strand": true,
"transcript": "ENST00000904787.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "R",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 3831,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3671,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000904788.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3671G>T",
"hgvs_p": "p.Arg1224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574847.1",
"strand": true,
"transcript": "ENST00000904788.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "R",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4188,
"cdna_start": 3763,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3671,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000904789.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3671G>T",
"hgvs_p": "p.Arg1224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574848.1",
"strand": true,
"transcript": "ENST00000904789.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "R",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": 3890,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3671,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000971158.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3671G>T",
"hgvs_p": "p.Arg1224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641217.1",
"strand": true,
"transcript": "ENST00000971158.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "R",
"aa_start": 1189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": 3816,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3566,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000904785.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3566G>T",
"hgvs_p": "p.Arg1189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574844.1",
"strand": true,
"transcript": "ENST00000904785.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "R",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 3698,
"cds_end": null,
"cds_length": 3543,
"cds_start": 3530,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000924633.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3530G>T",
"hgvs_p": "p.Arg1177Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594692.1",
"strand": true,
"transcript": "ENST00000924633.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "R",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 3682,
"cds_end": null,
"cds_length": 3471,
"cds_start": 3458,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000904786.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3458G>T",
"hgvs_p": "p.Arg1153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574845.1",
"strand": true,
"transcript": "ENST00000904786.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 892,
"cdna_start": 562,
"cds_end": null,
"cds_length": 573,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000567142.2",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.560G>T",
"hgvs_p": "p.Arg187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454521.2",
"strand": true,
"transcript": "ENST00000567142.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 187,
"aa_ref": "R",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 706,
"cdna_start": 551,
"cds_end": null,
"cds_length": 564,
"cds_start": 551,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000563819.5",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.551G>T",
"hgvs_p": "p.Arg184Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462397.1",
"strand": true,
"transcript": "ENST00000563819.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "R",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": 3895,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3671,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_011523484.3",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3671G>T",
"hgvs_p": "p.Arg1224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521786.1",
"strand": true,
"transcript": "XM_011523484.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "R",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 3733,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3671,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047434985.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3671G>T",
"hgvs_p": "p.Arg1224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290941.1",
"strand": true,
"transcript": "XM_047434985.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "R",
"aa_start": 1189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 3790,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3566,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017023913.3",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.3566G>T",
"hgvs_p": "p.Arg1189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879402.1",
"strand": true,
"transcript": "XM_017023913.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 950,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": null,
"cds_end": null,
"cds_length": 2853,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000537792.6",
"gene_hgnc_id": 17728,
"gene_symbol": "PMFBP1",
"hgvs_c": "c.*277C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443366.2",
"strand": false,
"transcript": "ENST00000537792.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 128,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 500,
"cdna_start": null,
"cds_end": null,
"cds_length": 387,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000562774.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "c.313-237G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462965.1",
"strand": true,
"transcript": "ENST00000562774.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000567552.1",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "n.862G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000567552.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000579387.5",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "n.*1186G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462149.1",
"strand": true,
"transcript": "ENST00000579387.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000579387.5",
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"hgvs_c": "n.*1186G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462149.1",
"strand": true,
"transcript": "ENST00000579387.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs369140795",
"effect": "missense_variant",
"frequency_reference_population": 6.850244e-7,
"gene_hgnc_id": 17211,
"gene_symbol": "DHX38",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85024e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.919,
"pos": 72112484,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.477,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014003.4"
}
]
}