← 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: 16-55485677-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=55485677&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 55485677,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000219070.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.732C>A",
"hgvs_p": "p.Tyr244*",
"transcript": "NM_004530.6",
"protein_id": "NP_004521.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 660,
"cds_start": 732,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": "ENST00000219070.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.732C>A",
"hgvs_p": "p.Tyr244*",
"transcript": "ENST00000219070.9",
"protein_id": "ENSP00000219070.4",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 660,
"cds_start": 732,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": "NM_004530.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Tyr194*",
"transcript": "ENST00000437642.6",
"protein_id": "ENSP00000394237.2",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 610,
"cds_start": 582,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.504C>A",
"hgvs_p": "p.Tyr168*",
"transcript": "ENST00000570308.5",
"protein_id": "ENSP00000461421.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 584,
"cds_start": 504,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Tyr194*",
"transcript": "NM_001127891.3",
"protein_id": "NP_001121363.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 610,
"cds_start": 582,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.504C>A",
"hgvs_p": "p.Tyr168*",
"transcript": "NM_001302508.1",
"protein_id": "NP_001289437.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 584,
"cds_start": 504,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.504C>A",
"hgvs_p": "p.Tyr168*",
"transcript": "NM_001302509.2",
"protein_id": "NP_001289438.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 584,
"cds_start": 504,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.504C>A",
"hgvs_p": "p.Tyr168*",
"transcript": "NM_001302510.2",
"protein_id": "NP_001289439.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 584,
"cds_start": 504,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.504C>A",
"hgvs_p": "p.Tyr168*",
"transcript": "ENST00000543485.5",
"protein_id": "ENSP00000444143.1",
"transcript_support_level": 2,
"aa_start": 168,
"aa_end": null,
"aa_length": 584,
"cds_start": 504,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"hgvs_c": "c.504C>A",
"hgvs_p": "p.Tyr168*",
"transcript": "ENST00000564864.5",
"protein_id": "ENSP00000456096.1",
"transcript_support_level": 4,
"aa_start": 168,
"aa_end": null,
"aa_length": 200,
"cds_start": 504,
"cds_end": null,
"cds_length": 603,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MMP2",
"gene_hgnc_id": 7166,
"dbsnp": "rs121912954",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.431,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000219070.9",
"gene_symbol": "MMP2",
"hgnc_id": 7166,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.732C>A",
"hgvs_p": "p.Tyr244*"
}
],
"clinvar_disease": " and arthropathy, nodulosis,Multicentric osteolysis,Multicentric osteolysis nodulosis arthropathy spectrum,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "not provided|Multicentric osteolysis nodulosis arthropathy spectrum|Multicentric osteolysis, nodulosis, and arthropathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}