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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: 22-41939124-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41939124&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41939124,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024053.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"transcript": "NM_024053.5",
"protein_id": "NP_076958.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 180,
"cds_start": 475,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215980.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024053.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser",
"transcript": "ENST00000215980.10",
"protein_id": "ENSP00000215980.5",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 180,
"cds_start": 475,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024053.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215980.10"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "ENST00000472374.6",
"protein_id": "ENSP00000430624.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 58,
"cds_start": 109,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472374.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Ser",
"transcript": "ENST00000921396.1",
"protein_id": "ENSP00000591455.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921396.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Gly148Ser",
"transcript": "ENST00000921393.1",
"protein_id": "ENSP00000591452.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 169,
"cds_start": 442,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921393.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Gly128Ser",
"transcript": "ENST00000921395.1",
"protein_id": "ENSP00000591454.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 149,
"cds_start": 382,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921395.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "NM_001304370.2",
"protein_id": "NP_001291299.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 146,
"cds_start": 373,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304370.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "ENST00000402338.5",
"protein_id": "ENSP00000384731.1",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 146,
"cds_start": 373,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402338.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser",
"transcript": "ENST00000921394.1",
"protein_id": "ENSP00000591453.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 142,
"cds_start": 361,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921394.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Ser",
"transcript": "NM_001110215.3",
"protein_id": "NP_001103685.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 58,
"cds_start": 109,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001110215.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.*80G>A",
"hgvs_p": null,
"transcript": "NM_001304372.2",
"protein_id": "NP_001291301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304372.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.*59G>A",
"hgvs_p": null,
"transcript": "NM_001002876.3",
"protein_id": "NP_001002876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002876.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.*59G>A",
"hgvs_p": null,
"transcript": "ENST00000407253.7",
"protein_id": "ENSP00000384743.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407253.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.*59G>A",
"hgvs_p": null,
"transcript": "NM_001304373.2",
"protein_id": "NP_001291302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304373.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.*59G>A",
"hgvs_p": null,
"transcript": "ENST00000404067.5",
"protein_id": "ENSP00000384814.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404067.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.300+4486G>A",
"hgvs_p": null,
"transcript": "ENST00000718240.1",
"protein_id": "ENSP00000520685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718240.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.402+4486G>A",
"hgvs_p": null,
"transcript": "XM_011530368.3",
"protein_id": "XP_011528670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530368.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"hgvs_c": "c.*80G>A",
"hgvs_p": null,
"transcript": "ENST00000402420.1",
"protein_id": "ENSP00000384132.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402420.1"
}
],
"gene_symbol": "CENPM",
"gene_hgnc_id": 18352,
"dbsnp": "rs774792724",
"frequency_reference_population": 0.00002666121,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.0000191706,
"gnomad_genomes_af": 0.000098517,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33047786355018616,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.1483,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.682,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_024053.5",
"gene_symbol": "CENPM",
"hgnc_id": 18352,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Ser"
}
],
"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
}