← Back to variant description
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: 5-150070569-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150070569&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150070569,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000675795.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.His362Arg",
"transcript": "NM_001288705.3",
"protein_id": "NP_001275634.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 972,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "ENST00000675795.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.His362Arg",
"transcript": "ENST00000675795.1",
"protein_id": "ENSP00000501699.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 972,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "NM_001288705.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.His362Arg",
"transcript": "ENST00000286301.7",
"protein_id": "ENSP00000286301.3",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 972,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Thr298Ala",
"transcript": "ENST00000543093.1",
"protein_id": "ENSP00000445282.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 306,
"cds_start": 892,
"cds_end": null,
"cds_length": 921,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "n.1085A>G",
"hgvs_p": null,
"transcript": "ENST00000504875.5",
"protein_id": "ENSP00000422212.1",
"transcript_support_level": 1,
"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": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.His362Arg",
"transcript": "NM_001349736.2",
"protein_id": "NP_001336665.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 972,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.His362Arg",
"transcript": "NM_001375320.1",
"protein_id": "NP_001362249.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 972,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.His362Arg",
"transcript": "NM_005211.4",
"protein_id": "NP_005202.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 972,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.641A>G",
"hgvs_p": "p.His214Arg",
"transcript": "NM_001375321.1",
"protein_id": "NP_001362250.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 824,
"cds_start": 641,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "n.1212A>G",
"hgvs_p": null,
"transcript": "NR_109969.2",
"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": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "n.1141A>G",
"hgvs_p": null,
"transcript": "NR_164679.1",
"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": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"dbsnp": "rs10079250",
"frequency_reference_population": 0.07971573,
"hom_count_reference_population": 6662,
"allele_count_reference_population": 121243,
"gnomad_exomes_af": 0.0787019,
"gnomad_genomes_af": 0.088832,
"gnomad_exomes_ac": 107721,
"gnomad_genomes_ac": 13522,
"gnomad_exomes_homalt": 5784,
"gnomad_genomes_homalt": 878,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004469186067581177,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0839,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.587,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000675795.1",
"gene_symbol": "CSF1R",
"hgnc_id": 2433,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.His362Arg"
}
],
"clinvar_disease": "Hereditary diffuse leukoencephalopathy with spheroids,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Hereditary diffuse leukoencephalopathy with spheroids|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}