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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: 19-50044948-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50044948&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50044948,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015428.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Met169Val",
"transcript": "NM_015428.4",
"protein_id": "NP_056243.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 871,
"cds_start": 505,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "ENST00000270617.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Met169Val",
"transcript": "ENST00000270617.8",
"protein_id": "ENSP00000270617.3",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 871,
"cds_start": 505,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "NM_015428.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Met169Val",
"transcript": "ENST00000391821.6",
"protein_id": "ENSP00000375697.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 871,
"cds_start": 505,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 4715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Met169Val",
"transcript": "NM_001006656.4",
"protein_id": "NP_001006657.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 871,
"cds_start": 505,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Met169Val",
"transcript": "ENST00000595661.5",
"protein_id": "ENSP00000472808.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 871,
"cds_start": 505,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 4828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Met157Val",
"transcript": "NM_001308424.3",
"protein_id": "NP_001295353.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 859,
"cds_start": 469,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Met157Val",
"transcript": "ENST00000445728.7",
"protein_id": "ENSP00000388961.2",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 859,
"cds_start": 469,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.226+3129A>G",
"hgvs_p": null,
"transcript": "ENST00000601364.5",
"protein_id": "ENSP00000471595.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269091",
"gene_hgnc_id": null,
"hgvs_c": "n.296-161T>C",
"hgvs_p": null,
"transcript": "ENST00000599410.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269091",
"gene_hgnc_id": null,
"hgvs_c": "n.182-161T>C",
"hgvs_p": null,
"transcript": "ENST00000599914.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269091",
"gene_hgnc_id": null,
"hgvs_c": "n.122-161T>C",
"hgvs_p": null,
"transcript": "ENST00000655988.1",
"protein_id": null,
"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": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.*198A>G",
"hgvs_p": null,
"transcript": "ENST00000599155.1",
"protein_id": "ENSP00000470862.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": -4,
"cds_end": null,
"cds_length": 307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "n.*370A>G",
"hgvs_p": null,
"transcript": "ENST00000594968.1",
"protein_id": "ENSP00000472687.1",
"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": 475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"dbsnp": "rs749660077",
"frequency_reference_population": 0.00004584564,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.0000478831,
"gnomad_genomes_af": 0.0000262781,
"gnomad_exomes_ac": 70,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.059463053941726685,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.001,
"revel_prediction": "Benign",
"alphamissense_score": 0.0737,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.016,
"phylop100way_prediction": "Benign",
"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": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015428.4",
"gene_symbol": "ZNF473",
"hgnc_id": 23239,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Met169Val"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000599410.1",
"gene_symbol": "ENSG00000269091",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.296-161T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}