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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: 9-34556323-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34556323&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34556323,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378980.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "NM_147164.3",
"protein_id": "NP_671693.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": "ENST00000378980.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "ENST00000378980.8",
"protein_id": "ENSP00000368265.3",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": "NM_147164.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "ENST00000351266.8",
"protein_id": "ENSP00000242338.4",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "NM_001207011.2",
"protein_id": "NP_001193940.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "NM_001842.5",
"protein_id": "NP_001833.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "ENST00000610543.4",
"protein_id": "ENSP00000480451.1",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "ENST00000417345.2",
"protein_id": "ENSP00000388082.1",
"transcript_support_level": 3,
"aa_start": 234,
"aa_end": null,
"aa_length": 255,
"cds_start": 700,
"cds_end": null,
"cds_length": 768,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1039G>C",
"hgvs_p": "p.Asp347His",
"transcript": "XM_047422753.1",
"protein_id": "XP_047278709.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 485,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Asp301His",
"transcript": "XM_017014260.2",
"protein_id": "XP_016869749.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 439,
"cds_start": 901,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Asp301His",
"transcript": "XM_017014261.2",
"protein_id": "XP_016869750.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 439,
"cds_start": 901,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Asp301His",
"transcript": "XM_017014262.2",
"protein_id": "XP_016869751.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 439,
"cds_start": 901,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Asp301His",
"transcript": "XM_047422755.1",
"protein_id": "XP_047278711.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 439,
"cds_start": 901,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Asp301His",
"transcript": "XM_047422756.1",
"protein_id": "XP_047278712.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 439,
"cds_start": 901,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "XM_017014263.2",
"protein_id": "XP_016869752.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "XM_017014264.2",
"protein_id": "XP_016869753.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "XM_017014265.2",
"protein_id": "XP_016869754.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "XM_047422757.1",
"protein_id": "XP_047278713.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "XM_047422758.1",
"protein_id": "XP_047278714.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 700,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "XM_047422754.1",
"protein_id": "XP_047278710.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 334,
"cds_start": 700,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"dbsnp": "rs193920748",
"frequency_reference_population": 6.841218e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84122e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7147110104560852,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.409,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8592,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.522,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000378980.8",
"gene_symbol": "CNTFR",
"hgnc_id": 2170,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}