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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: 9-114195977-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114195977&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114195977,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032888.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "NM_032888.4",
"protein_id": "NP_116277.2",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1860,
"cds_start": 2089,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356083.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032888.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "ENST00000356083.8",
"protein_id": "ENSP00000348385.3",
"transcript_support_level": 1,
"aa_start": 697,
"aa_end": null,
"aa_length": 1860,
"cds_start": 2089,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032888.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356083.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.1876G>C",
"hgvs_p": "p.Gly626Arg",
"transcript": "ENST00000451716.5",
"protein_id": "ENSP00000391328.1",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 714,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451716.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "n.982G>C",
"hgvs_p": null,
"transcript": "ENST00000494090.6",
"protein_id": "ENSP00000432928.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494090.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2083G>C",
"hgvs_p": "p.Gly695Arg",
"transcript": "XM_011519138.3",
"protein_id": "XP_011517440.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1858,
"cds_start": 2083,
"cds_end": null,
"cds_length": 5577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519138.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2035G>C",
"hgvs_p": "p.Gly679Arg",
"transcript": "XM_006717308.3",
"protein_id": "XP_006717371.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1842,
"cds_start": 2035,
"cds_end": null,
"cds_length": 5529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717308.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "XM_011519140.2",
"protein_id": "XP_011517442.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1842,
"cds_start": 2089,
"cds_end": null,
"cds_length": 5529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519140.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2029G>C",
"hgvs_p": "p.Gly677Arg",
"transcript": "XM_047423992.1",
"protein_id": "XP_047279948.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 1840,
"cds_start": 2029,
"cds_end": null,
"cds_length": 5523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423992.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "XM_047423993.1",
"protein_id": "XP_047279949.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1516,
"cds_start": 2089,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423993.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "XM_011519142.4",
"protein_id": "XP_011517444.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2089,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519142.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "XM_011519143.3",
"protein_id": "XP_011517445.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2089,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519143.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "XM_011519144.3",
"protein_id": "XP_011517446.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2089,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519144.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "XM_017015239.2",
"protein_id": "XP_016870728.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2089,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015239.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "XM_047423994.1",
"protein_id": "XP_047279950.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2089,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423994.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg",
"transcript": "XM_047423995.1",
"protein_id": "XP_047279951.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2089,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423995.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "n.2503G>C",
"hgvs_p": null,
"transcript": "XR_929860.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_929860.4"
}
],
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"dbsnp": "rs140950220",
"frequency_reference_population": 0.000057618603,
"hom_count_reference_population": 1,
"allele_count_reference_population": 93,
"gnomad_exomes_af": 0.0000307853,
"gnomad_genomes_af": 0.000315118,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 48,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8174844980239868,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.971,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.166,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "Likely_pathogenic",
"acmg_criteria": "PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PP3",
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_032888.4",
"gene_symbol": "COL27A1",
"hgnc_id": 22986,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Gly697Arg"
}
],
"clinvar_disease": "COL27A1-related disorder,Steel syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Steel syndrome|not provided|COL27A1-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}