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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: 11-532701-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=532701&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 532701,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000311189.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Trp",
"transcript": "NM_005343.4",
"protein_id": "NP_005334.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 189,
"cds_start": 505,
"cds_end": null,
"cds_length": 570,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "ENST00000311189.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Trp",
"transcript": "ENST00000311189.8",
"protein_id": "ENSP00000309845.7",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 189,
"cds_start": 505,
"cds_end": null,
"cds_length": 570,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "NM_005343.4",
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "n.*74C>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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.*74C>T",
"hgvs_p": null,
"transcript": "NM_176795.5",
"protein_id": "NP_789765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": "ENST00000417302.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.*74C>T",
"hgvs_p": null,
"transcript": "ENST00000417302.7",
"protein_id": "ENSP00000388246.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "n.*74C>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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Trp",
"transcript": "NM_001130442.3",
"protein_id": "NP_001123914.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 189,
"cds_start": 505,
"cds_end": null,
"cds_length": 570,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Trp",
"transcript": "ENST00000397596.6",
"protein_id": "ENSP00000380723.2",
"transcript_support_level": 3,
"aa_start": 169,
"aa_end": null,
"aa_length": 189,
"cds_start": 505,
"cds_end": null,
"cds_length": 570,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Trp",
"transcript": "ENST00000451590.5",
"protein_id": "ENSP00000407586.1",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 189,
"cds_start": 505,
"cds_end": null,
"cds_length": 570,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "NM_001318054.2",
"protein_id": "NP_001304983.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 110,
"cds_start": 268,
"cds_end": null,
"cds_length": 333,
"cdna_start": 801,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "n.*117C>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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "n.426C>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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "n.*117C>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": 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+4364G>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+4364G>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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HRAS",
"gene_hgnc_id": 5173,
"hgvs_c": "c.*20-71C>T",
"hgvs_p": null,
"transcript": "ENST00000397594.7",
"protein_id": "ENSP00000380722.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 974,
"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.-425+4364G>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.-500+4364G>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.-500+4364G>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.-500+4364G>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": "rs151229168",
"frequency_reference_population": 0.00004215705,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000438123,
"gnomad_genomes_af": 0.0000262746,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5015342235565186,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.357,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3701,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.041,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000311189.8",
"gene_symbol": "HRAS",
"hgnc_id": 5173,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Trp"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001441284.1",
"gene_symbol": "LRRC56",
"hgnc_id": 25430,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-162+4364G>A",
"hgvs_p": null
}
],
"clinvar_disease": "6 conditions,Cardiovascular phenotype,Costello syndrome,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not specified|Costello syndrome|Cardiovascular phenotype|6 conditions|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}