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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: 22-30888236-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30888236&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30888236,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000332585.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Thr438Thr",
"transcript": "NM_030758.4",
"protein_id": "NP_110385.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 916,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": "ENST00000332585.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000332585.11",
"protein_id": "ENSP00000332576.6",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 916,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": "NM_030758.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000446658.6",
"protein_id": "ENSP00000392080.2",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 915,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Thr69Thr",
"transcript": "ENST00000452656.5",
"protein_id": "ENSP00000409838.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 450,
"cds_start": 207,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Thr438Thr",
"transcript": "NM_001282739.2",
"protein_id": "NP_001269668.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 915,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.819T>C",
"hgvs_p": "p.Thr273Thr",
"transcript": "NM_001282738.2",
"protein_id": "NP_001269667.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 750,
"cds_start": 819,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.819T>C",
"hgvs_p": "p.Thr273Thr",
"transcript": "ENST00000438716.3",
"protein_id": "ENSP00000411052.2",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 750,
"cds_start": 819,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.795T>C",
"hgvs_p": "p.Thr265Thr",
"transcript": "ENST00000407373.5",
"protein_id": "ENSP00000385237.1",
"transcript_support_level": 2,
"aa_start": 265,
"aa_end": null,
"aa_length": 743,
"cds_start": 795,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Thr180Thr",
"transcript": "NM_001282741.2",
"protein_id": "NP_001269670.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 659,
"cds_start": 540,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Thr180Thr",
"transcript": "ENST00000437268.6",
"protein_id": "ENSP00000389200.2",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 659,
"cds_start": 540,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.477T>C",
"hgvs_p": "p.Thr159Thr",
"transcript": "ENST00000403222.7",
"protein_id": "ENSP00000384213.4",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 636,
"cds_start": 477,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.216T>C",
"hgvs_p": "p.Thr72Thr",
"transcript": "NM_001282740.2",
"protein_id": "NP_001269669.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 549,
"cds_start": 216,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.216T>C",
"hgvs_p": "p.Thr72Thr",
"transcript": "ENST00000401475.5",
"protein_id": "ENSP00000385254.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 549,
"cds_start": 216,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.216T>C",
"hgvs_p": "p.Thr72Thr",
"transcript": "ENST00000713559.1",
"protein_id": "ENSP00000518852.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 541,
"cds_start": 216,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.216T>C",
"hgvs_p": "p.Thr72Thr",
"transcript": "ENST00000424224.5",
"protein_id": "ENSP00000388575.1",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 173,
"cds_start": 216,
"cds_end": null,
"cds_length": 524,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107985544",
"gene_hgnc_id": null,
"hgvs_c": "n.2281A>G",
"hgvs_p": null,
"transcript": "NR_146603.1",
"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": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.-52T>C",
"hgvs_p": null,
"transcript": "ENST00000431368.6",
"protein_id": "ENSP00000415274.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": -4,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.-52T>C",
"hgvs_p": null,
"transcript": "NM_001282742.2",
"protein_id": "NP_001269671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.-52T>C",
"hgvs_p": null,
"transcript": "ENST00000535268.5",
"protein_id": "ENSP00000438713.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.-52T>C",
"hgvs_p": null,
"transcript": "ENST00000454145.6",
"protein_id": "ENSP00000409011.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
"cds_end": null,
"cds_length": 209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"dbsnp": "rs566695358",
"frequency_reference_population": 0.000013045747,
"hom_count_reference_population": 1,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000130358,
"gnomad_genomes_af": 0.0000131415,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024000000208616257,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.633,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000332585.11",
"gene_symbol": "OSBP2",
"hgnc_id": 8504,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Thr438Thr"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_146603.1",
"gene_symbol": "LOC107985544",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2281A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}