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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: 11-533900-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=533900&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 533900,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000311189.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu",
"transcript": "NM_005343.4",
"protein_id": "NP_005334.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 189,
"cds_start": 156,
"cds_end": null,
"cds_length": 570,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "ENST00000311189.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu",
"transcript": "ENST00000311189.8",
"protein_id": "ENSP00000309845.7",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 189,
"cds_start": 156,
"cds_end": null,
"cds_length": 570,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "NM_005343.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu",
"transcript": "NM_176795.5",
"protein_id": "NP_789765.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 170,
"cds_start": 156,
"cds_end": null,
"cds_length": 513,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": "ENST00000417302.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu",
"transcript": "ENST00000417302.7",
"protein_id": "ENSP00000388246.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 170,
"cds_start": 156,
"cds_end": null,
"cds_length": 513,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": "NM_176795.5",
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "n.156G>T",
"hgvs_p": null,
"transcript": "ENST00000493230.5",
"protein_id": "ENSP00000434023.1",
"transcript_support_level": 1,
"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": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu",
"transcript": "NM_001130442.3",
"protein_id": "NP_001123914.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 189,
"cds_start": 156,
"cds_end": null,
"cds_length": 570,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu",
"transcript": "ENST00000397596.6",
"protein_id": "ENSP00000380723.2",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 189,
"cds_start": 156,
"cds_end": null,
"cds_length": 570,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu",
"transcript": "ENST00000451590.5",
"protein_id": "ENSP00000407586.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 189,
"cds_start": 156,
"cds_end": null,
"cds_length": 570,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu",
"transcript": "ENST00000397594.7",
"protein_id": "ENSP00000380722.3",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 170,
"cds_start": 156,
"cds_end": null,
"cds_length": 513,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu",
"transcript": "ENST00000468682.2",
"protein_id": "ENSP00000507989.1",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 86,
"cds_start": 156,
"cds_end": null,
"cds_length": 261,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 749,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "n.156G>T",
"hgvs_p": null,
"transcript": "ENST00000462734.2",
"protein_id": "ENSP00000507303.1",
"transcript_support_level": 2,
"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": 1939,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "n.77G>T",
"hgvs_p": null,
"transcript": "ENST00000479482.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"transcript": "NM_001318054.2",
"protein_id": "NP_001304983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1152,
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC56",
"gene_hgnc_id": 25430,
"hgvs_c": "c.-162+5563C>A",
"hgvs_p": null,
"transcript": "NM_001441284.1",
"protein_id": "NP_001428213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2725,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC56",
"gene_hgnc_id": 25430,
"hgvs_c": "c.-162+5563C>A",
"hgvs_p": null,
"transcript": "NM_001441286.1",
"protein_id": "NP_001428215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2548,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC56",
"gene_hgnc_id": 25430,
"hgvs_c": "c.-424-4698C>A",
"hgvs_p": null,
"transcript": "XM_011519875.3",
"protein_id": "XP_011518177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2988,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC56",
"gene_hgnc_id": 25430,
"hgvs_c": "c.-499-4623C>A",
"hgvs_p": null,
"transcript": "XM_017017167.2",
"protein_id": "XP_016872656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3063,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC56",
"gene_hgnc_id": 25430,
"hgvs_c": "c.-499-4623C>A",
"hgvs_p": null,
"transcript": "XM_017017168.2",
"protein_id": "XP_016872657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3323,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC56",
"gene_hgnc_id": 25430,
"hgvs_c": "c.-499-4623C>A",
"hgvs_p": null,
"transcript": "XM_047426336.1",
"protein_id": "XP_047282292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"dbsnp": "rs1060504681",
"frequency_reference_population": 0.000003099618,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273799,
"gnomad_genomes_af": 0.00000657125,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.04,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000311189.8",
"gene_symbol": "HRAS",
"hgnc_id": 5173,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Leu52Leu"
},
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_001441284.1",
"gene_symbol": "LRRC56",
"hgnc_id": 25430,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-162+5563C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Costello syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Costello syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}