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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: 17-42103743-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42103743&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42103743,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024119.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "NM_024119.3",
"protein_id": "NP_077024.2",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 678,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251642.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024119.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "ENST00000251642.8",
"protein_id": "ENSP00000251642.3",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 678,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024119.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251642.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547Gln",
"transcript": "ENST00000954404.1",
"protein_id": "ENSP00000624463.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 685,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954404.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "ENST00000900696.1",
"protein_id": "ENSP00000570755.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 678,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900696.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "ENST00000900697.1",
"protein_id": "ENSP00000570756.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 678,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900697.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "ENST00000900699.1",
"protein_id": "ENSP00000570758.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 678,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900699.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "ENST00000954407.1",
"protein_id": "ENSP00000624466.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 678,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954407.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "ENST00000900698.1",
"protein_id": "ENSP00000570757.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 671,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900698.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533Gln",
"transcript": "ENST00000900700.1",
"protein_id": "ENSP00000570759.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 671,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900700.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533Gln",
"transcript": "ENST00000900701.1",
"protein_id": "ENSP00000570760.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 671,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900701.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "ENST00000900702.1",
"protein_id": "ENSP00000570761.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 671,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900702.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "ENST00000900703.1",
"protein_id": "ENSP00000570762.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 671,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900703.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "ENST00000954406.1",
"protein_id": "ENSP00000624465.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 671,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954406.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490Gln",
"transcript": "ENST00000954405.1",
"protein_id": "ENSP00000624464.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 628,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954405.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "XM_047436724.1",
"protein_id": "XP_047292680.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 678,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436724.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"transcript": "XM_047436725.1",
"protein_id": "XP_047292681.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 678,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436725.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "c.1563+1023G>A",
"hgvs_p": null,
"transcript": "XM_047436726.1",
"protein_id": "XP_047292682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "n.1801G>A",
"hgvs_p": null,
"transcript": "ENST00000586522.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000586522.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "n.613G>A",
"hgvs_p": null,
"transcript": "ENST00000590637.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000590637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"hgvs_c": "n.141+1023G>A",
"hgvs_p": null,
"transcript": "ENST00000589979.1",
"protein_id": "ENSP00000467470.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589979.1"
}
],
"gene_symbol": "DHX58",
"gene_hgnc_id": 29517,
"dbsnp": "rs782146852",
"frequency_reference_population": 0.000010270497,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000102705,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03891199827194214,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.0687,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.996,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_024119.3",
"gene_symbol": "DHX58",
"hgnc_id": 29517,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln"
}
],
"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
}