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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: 4-24819901-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=24819901&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 24819901,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001395273.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1135T>A",
"hgvs_p": "p.Phe379Ile",
"transcript": "NM_001395273.1",
"protein_id": "NP_001382202.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 535,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000635206.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395273.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1135T>A",
"hgvs_p": "p.Phe379Ile",
"transcript": "ENST00000635206.3",
"protein_id": "ENSP00000488929.2",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 535,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395273.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635206.3"
},
{
"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": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.358-11082T>A",
"hgvs_p": null,
"transcript": "ENST00000502801.1",
"protein_id": "ENSP00000427529.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502801.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1126T>A",
"hgvs_p": "p.Phe376Ile",
"transcript": "ENST00000904727.1",
"protein_id": "ENSP00000574786.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 532,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904727.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1117T>A",
"hgvs_p": "p.Phe373Ile",
"transcript": "NM_173463.6",
"protein_id": "NP_775734.2",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 529,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173463.6"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1117T>A",
"hgvs_p": "p.Phe373Ile",
"transcript": "ENST00000389609.8",
"protein_id": "ENSP00000374260.4",
"transcript_support_level": 2,
"aa_start": 373,
"aa_end": null,
"aa_length": 529,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389609.8"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1102T>A",
"hgvs_p": "p.Phe368Ile",
"transcript": "NM_001130726.5",
"protein_id": "NP_001124198.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 524,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130726.5"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1102T>A",
"hgvs_p": "p.Phe368Ile",
"transcript": "ENST00000504487.5",
"protein_id": "ENSP00000425715.2",
"transcript_support_level": 2,
"aa_start": 368,
"aa_end": null,
"aa_length": 524,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504487.5"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1093T>A",
"hgvs_p": "p.Phe365Ile",
"transcript": "ENST00000904725.1",
"protein_id": "ENSP00000574784.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 521,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904725.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.985T>A",
"hgvs_p": "p.Phe329Ile",
"transcript": "ENST00000914099.1",
"protein_id": "ENSP00000584158.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 485,
"cds_start": 985,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914099.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.952T>A",
"hgvs_p": "p.Phe318Ile",
"transcript": "NM_001330644.2",
"protein_id": "NP_001317573.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 474,
"cds_start": 952,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330644.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.934T>A",
"hgvs_p": "p.Phe312Ile",
"transcript": "ENST00000904724.1",
"protein_id": "ENSP00000574783.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 468,
"cds_start": 934,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904724.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.901T>A",
"hgvs_p": "p.Phe301Ile",
"transcript": "ENST00000904726.1",
"protein_id": "ENSP00000574785.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 457,
"cds_start": 901,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904726.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.856T>A",
"hgvs_p": "p.Phe286Ile",
"transcript": "ENST00000951414.1",
"protein_id": "ENSP00000621473.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 442,
"cds_start": 856,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951414.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1150T>A",
"hgvs_p": "p.Phe384Ile",
"transcript": "XM_011513906.4",
"protein_id": "XP_011512208.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 540,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513906.4"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.1117T>A",
"hgvs_p": "p.Phe373Ile",
"transcript": "XM_017008827.3",
"protein_id": "XP_016864316.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 529,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008827.3"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.985T>A",
"hgvs_p": "p.Phe329Ile",
"transcript": "XM_011513907.4",
"protein_id": "XP_011512209.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 485,
"cds_start": 985,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513907.4"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "c.985T>A",
"hgvs_p": "p.Phe329Ile",
"transcript": "XM_011513908.3",
"protein_id": "XP_011512210.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 485,
"cds_start": 985,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513908.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"hgvs_c": "n.297T>A",
"hgvs_p": null,
"transcript": "ENST00000507096.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000507096.1"
}
],
"gene_symbol": "CCDC149",
"gene_hgnc_id": 25405,
"dbsnp": "rs369908357",
"frequency_reference_population": 0.00007347737,
"hom_count_reference_population": 0,
"allele_count_reference_population": 114,
"gnomad_exomes_af": 0.0000421602,
"gnomad_genomes_af": 0.000361666,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 55,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015630096197128296,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.0884,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.5,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001395273.1",
"gene_symbol": "CCDC149",
"hgnc_id": 25405,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1135T>A",
"hgvs_p": "p.Phe379Ile"
}
],
"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
}