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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: 11-113410831-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=113410831&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 113410831,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000795.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"transcript": "NM_000795.4",
"protein_id": "NP_000786.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 443,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": "ENST00000362072.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"transcript": "ENST00000362072.8",
"protein_id": "ENSP00000354859.3",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 443,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": "NM_000795.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"transcript": "ENST00000542968.5",
"protein_id": "ENSP00000442172.1",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 443,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "ENST00000544518.5",
"protein_id": "ENSP00000441068.1",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 442,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Ala381Thr",
"transcript": "ENST00000346454.7",
"protein_id": "ENSP00000278597.5",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 414,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Ala412Thr",
"transcript": "ENST00000538967.5",
"protein_id": "ENSP00000438215.1",
"transcript_support_level": 5,
"aa_start": 412,
"aa_end": null,
"aa_length": 445,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "NM_001440368.1",
"protein_id": "NP_001427297.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 442,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Ala381Thr",
"transcript": "NM_016574.4",
"protein_id": "NP_057658.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 414,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"transcript": "XM_017017296.3",
"protein_id": "XP_016872785.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 443,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Ala381Thr",
"transcript": "XM_047426511.1",
"protein_id": "XP_047282467.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 414,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256757",
"gene_hgnc_id": null,
"hgvs_c": "n.245-716C>T",
"hgvs_p": null,
"transcript": "ENST00000546284.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DRD2",
"gene_hgnc_id": 3023,
"dbsnp": "rs758683320",
"frequency_reference_population": 0.00020569834,
"hom_count_reference_population": 3,
"allele_count_reference_population": 332,
"gnomad_exomes_af": 0.000210004,
"gnomad_genomes_af": 0.000164329,
"gnomad_exomes_ac": 307,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010267019271850586,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.1103,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.156,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000795.4",
"gene_symbol": "DRD2",
"hgnc_id": 3023,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000546284.1",
"gene_symbol": "ENSG00000256757",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.245-716C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Dystonic disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Dystonic disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}