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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: 3-154284969-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=154284969&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 154284969,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020865.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.2050G>C",
"hgvs_p": "p.Glu684Gln",
"transcript": "NM_020865.3",
"protein_id": "NP_065916.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2050,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000496811.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020865.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.2050G>C",
"hgvs_p": "p.Glu684Gln",
"transcript": "ENST00000496811.6",
"protein_id": "ENSP00000417078.1",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2050,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020865.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496811.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.2008G>C",
"hgvs_p": "p.Glu670Gln",
"transcript": "ENST00000329463.9",
"protein_id": "ENSP00000330113.5",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 994,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329463.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.2050G>C",
"hgvs_p": "p.Glu684Gln",
"transcript": "ENST00000308361.10",
"protein_id": "ENSP00000309296.6",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 979,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308361.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.2191G>C",
"hgvs_p": "p.Glu731Gln",
"transcript": "ENST00000932391.1",
"protein_id": "ENSP00000602450.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2191,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932391.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.2008G>C",
"hgvs_p": "p.Glu670Gln",
"transcript": "NM_001114397.2",
"protein_id": "NP_001107869.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 994,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114397.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.1948G>C",
"hgvs_p": "p.Glu650Gln",
"transcript": "ENST00000964934.1",
"protein_id": "ENSP00000634993.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 974,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964934.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.1792G>C",
"hgvs_p": "p.Glu598Gln",
"transcript": "ENST00000481941.5",
"protein_id": "ENSP00000419862.1",
"transcript_support_level": 2,
"aa_start": 598,
"aa_end": null,
"aa_length": 796,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481941.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.388G>C",
"hgvs_p": "p.Glu130Gln",
"transcript": "ENST00000469977.1",
"protein_id": "ENSP00000419761.1",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 185,
"cds_start": 388,
"cds_end": null,
"cds_length": 560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469977.1"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "c.604-1698G>C",
"hgvs_p": null,
"transcript": "ENST00000964933.1",
"protein_id": "ENSP00000634992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964933.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "n.19G>C",
"hgvs_p": null,
"transcript": "ENST00000479934.5",
"protein_id": "ENSP00000418756.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000479934.5"
},
{
"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": "DHX36",
"gene_hgnc_id": 14410,
"hgvs_c": "n.264G>C",
"hgvs_p": null,
"transcript": "ENST00000481332.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000481332.1"
}
],
"gene_symbol": "DHX36",
"gene_hgnc_id": 14410,
"dbsnp": "rs149205201",
"frequency_reference_population": 0.000013011314,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136814,
"gnomad_genomes_af": 0.00000657272,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48483338952064514,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.263,
"revel_prediction": "Benign",
"alphamissense_score": 0.6665,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.697,
"phylop100way_prediction": "Pathogenic",
"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_020865.3",
"gene_symbol": "DHX36",
"hgnc_id": 14410,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2050G>C",
"hgvs_p": "p.Glu684Gln"
}
],
"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
}