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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: 4-24576625-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=24576625&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 24576625,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001358.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "NM_001358.3",
"protein_id": "NP_001349.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 795,
"cds_start": 125,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336812.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001358.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000336812.5",
"protein_id": "ENSP00000336741.4",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 795,
"cds_start": 125,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001358.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336812.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000853185.1",
"protein_id": "ENSP00000523244.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 792,
"cds_start": 125,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853185.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000853187.1",
"protein_id": "ENSP00000523246.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 783,
"cds_start": 125,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853187.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000853184.1",
"protein_id": "ENSP00000523243.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 774,
"cds_start": 125,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853184.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000853183.1",
"protein_id": "ENSP00000523242.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 771,
"cds_start": 125,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853183.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000911559.1",
"protein_id": "ENSP00000581618.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 760,
"cds_start": 125,
"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": "ENST00000911559.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000853186.1",
"protein_id": "ENSP00000523245.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 754,
"cds_start": 125,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853186.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000911562.1",
"protein_id": "ENSP00000581621.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 739,
"cds_start": 125,
"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": "ENST00000911562.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000953075.1",
"protein_id": "ENSP00000623134.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 733,
"cds_start": 125,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953075.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000911558.1",
"protein_id": "ENSP00000581617.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 731,
"cds_start": 125,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911558.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000953076.1",
"protein_id": "ENSP00000623135.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 692,
"cds_start": 125,
"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": "ENST00000953076.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "ENST00000911560.1",
"protein_id": "ENSP00000581619.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 613,
"cds_start": 125,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911560.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "XM_047449698.1",
"protein_id": "XP_047305654.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 608,
"cds_start": 125,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449698.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln",
"transcript": "XM_047449699.1",
"protein_id": "XP_047305655.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 600,
"cds_start": 125,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449699.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "c.71+7698G>A",
"hgvs_p": null,
"transcript": "ENST00000911561.1",
"protein_id": "ENSP00000581620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": null,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911561.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "n.376G>A",
"hgvs_p": null,
"transcript": "ENST00000511553.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000511553.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"hgvs_c": "n.492G>A",
"hgvs_p": null,
"transcript": "ENST00000513092.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000513092.1"
}
],
"gene_symbol": "DHX15",
"gene_hgnc_id": 2738,
"dbsnp": "rs1024079640",
"frequency_reference_population": 0.0000638242,
"hom_count_reference_population": 0,
"allele_count_reference_population": 103,
"gnomad_exomes_af": 0.0000677315,
"gnomad_genomes_af": 0.0000262892,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4359709322452545,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.5091,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.547,
"phylop100way_prediction": "Uncertain_significance",
"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": -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_001358.3",
"gene_symbol": "DHX15",
"hgnc_id": 2738,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42Gln"
}
],
"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
}