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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: 9-17135124-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=17135124&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 17135124,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000380647.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "NM_017738.4",
"protein_id": "NP_060208.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1406,
"cds_start": 59,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": "ENST00000380647.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "ENST00000380647.8",
"protein_id": "ENSP00000370021.3",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 1406,
"cds_start": 59,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": "NM_017738.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "NM_001365029.1",
"protein_id": "NP_001351958.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1405,
"cds_start": 59,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "NM_001114395.3",
"protein_id": "NP_001107867.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 391,
"cds_start": 59,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "ENST00000380641.4",
"protein_id": "ENSP00000370015.3",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 391,
"cds_start": 59,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 4871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "NM_001286984.2",
"protein_id": "NP_001273913.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 203,
"cds_start": 59,
"cds_end": null,
"cds_length": 612,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "NM_001286985.2",
"protein_id": "NP_001273914.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 140,
"cds_start": 59,
"cds_end": null,
"cds_length": 423,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_017014839.2",
"protein_id": "XP_016870328.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1405,
"cds_start": 59,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_006716793.5",
"protein_id": "XP_006716856.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1343,
"cds_start": 59,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_047423519.1",
"protein_id": "XP_047279475.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1342,
"cds_start": 59,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_017014841.2",
"protein_id": "XP_016870330.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1341,
"cds_start": 59,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_047423520.1",
"protein_id": "XP_047279476.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1340,
"cds_start": 59,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 5320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_024447583.2",
"protein_id": "XP_024303351.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1318,
"cds_start": 59,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 7810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_047423521.1",
"protein_id": "XP_047279477.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1317,
"cds_start": 59,
"cds_end": null,
"cds_length": 3954,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 7807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_011517941.3",
"protein_id": "XP_011516243.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1054,
"cds_start": 59,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_017014842.2",
"protein_id": "XP_016870331.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1054,
"cds_start": 59,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 85,
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"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His",
"transcript": "XM_017014843.2",
"protein_id": "XP_016870332.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1046,
"cds_start": 59,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "n.143C>A",
"hgvs_p": null,
"transcript": "ENST00000484374.1",
"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": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "n.85C>A",
"hgvs_p": null,
"transcript": "XR_007061321.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "n.85C>A",
"hgvs_p": null,
"transcript": "XR_007061322.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"hgvs_c": "n.85C>A",
"hgvs_p": null,
"transcript": "XR_929282.3",
"protein_id": null,
"transcript_support_level": null,
"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": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNTLN",
"gene_hgnc_id": 23432,
"dbsnp": "rs1224252917",
"frequency_reference_population": 6.8747136e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87471e-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": 0.07112342119216919,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.671,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000380647.8",
"gene_symbol": "CNTLN",
"hgnc_id": 23432,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Pro20His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}