← Back to variant description
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: 1-182852270-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=182852270&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 182852270,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001357.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "NM_001357.5",
"protein_id": "NP_001348.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1270,
"cds_start": 290,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367549.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001357.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000367549.4",
"protein_id": "ENSP00000356520.3",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 1270,
"cds_start": 290,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001357.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367549.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000926361.1",
"protein_id": "ENSP00000596420.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1270,
"cds_start": 290,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926361.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000926363.1",
"protein_id": "ENSP00000596422.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1270,
"cds_start": 290,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926363.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000926365.1",
"protein_id": "ENSP00000596424.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1270,
"cds_start": 290,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926365.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000926362.1",
"protein_id": "ENSP00000596421.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1269,
"cds_start": 290,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926362.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Thr95Ile",
"transcript": "ENST00000926364.1",
"protein_id": "ENSP00000596423.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 1268,
"cds_start": 284,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926364.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000863483.1",
"protein_id": "ENSP00000533542.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1263,
"cds_start": 290,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863483.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000949150.1",
"protein_id": "ENSP00000619209.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1203,
"cds_start": 290,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949150.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000926366.1",
"protein_id": "ENSP00000596425.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1195,
"cds_start": 290,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926366.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000863482.1",
"protein_id": "ENSP00000533541.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1179,
"cds_start": 290,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863482.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000863481.1",
"protein_id": "ENSP00000533540.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1136,
"cds_start": 290,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "n.514C>T",
"hgvs_p": null,
"transcript": "ENST00000483416.1",
"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": "pseudogene",
"feature": "ENST00000483416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"hgvs_c": "n.422C>T",
"hgvs_p": null,
"transcript": "NR_033302.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_033302.2"
}
],
"gene_symbol": "DHX9",
"gene_hgnc_id": 2750,
"dbsnp": "rs1668166392",
"frequency_reference_population": 6.845527e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84553e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05559951066970825,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.083,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.073,
"phylop100way_prediction": "Benign",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,PP2,BP4_Strong",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001357.5",
"gene_symbol": "DHX9",
"hgnc_id": 2750,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}