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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: 3-114128883-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=114128883&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 114128883,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000796.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Phe346Leu",
"transcript": "NM_000796.6",
"protein_id": "NP_000787.2",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 400,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "ENST00000383673.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"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": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Phe346Leu",
"transcript": "ENST00000383673.5",
"protein_id": "ENSP00000373169.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 400,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "NM_000796.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Phe346Leu",
"transcript": "ENST00000467632.5",
"protein_id": "ENSP00000420662.1",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 400,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Phe346Leu",
"transcript": "NM_001282563.2",
"protein_id": "NP_001269492.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 400,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Phe346Leu",
"transcript": "NM_001290809.1",
"protein_id": "NP_001277738.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 400,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Phe346Leu",
"transcript": "ENST00000460779.5",
"protein_id": "ENSP00000419402.1",
"transcript_support_level": 2,
"aa_start": 346,
"aa_end": null,
"aa_length": 400,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "c.937T>C",
"hgvs_p": "p.Phe313Leu",
"transcript": "NM_033663.6",
"protein_id": "NP_387512.3",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 367,
"cds_start": 937,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "c.937T>C",
"hgvs_p": "p.Phe313Leu",
"transcript": "ENST00000295881.9",
"protein_id": "ENSP00000295881.6",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 367,
"cds_start": 937,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "n.*340T>C",
"hgvs_p": null,
"transcript": "ENST00000698213.1",
"protein_id": "ENSP00000513607.1",
"transcript_support_level": null,
"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": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRD3",
"gene_hgnc_id": 3024,
"hgvs_c": "n.*340T>C",
"hgvs_p": null,
"transcript": "ENST00000698213.1",
"protein_id": "ENSP00000513607.1",
"transcript_support_level": null,
"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": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DRD3",
"gene_hgnc_id": 3024,
"dbsnp": "rs201788253",
"frequency_reference_population": 0.00003504119,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000350412,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9261479377746582,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.732,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000796.6",
"gene_symbol": "DRD3",
"hgnc_id": 3024,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Phe346Leu"
}
],
"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
}