← 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: 17-47809447-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47809447&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47809447,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_145798.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Thr638Ala",
"transcript": "NM_145798.3",
"protein_id": "NP_665741.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 842,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": "ENST00000007414.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145798.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Thr638Ala",
"transcript": "ENST00000007414.8",
"protein_id": "ENSP00000007414.3",
"transcript_support_level": 1,
"aa_start": 638,
"aa_end": null,
"aa_length": 842,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": "NM_145798.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000007414.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "n.*246-332A>G",
"hgvs_p": null,
"transcript": "ENST00000613735.4",
"protein_id": "ENSP00000479827.1",
"transcript_support_level": 1,
"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": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000613735.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Thr638Ala",
"transcript": "ENST00000915866.1",
"protein_id": "ENSP00000585925.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 848,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915866.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Thr638Ala",
"transcript": "ENST00000853973.1",
"protein_id": "ENSP00000524032.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 842,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853973.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Thr638Ala",
"transcript": "ENST00000853974.1",
"protein_id": "ENSP00000524033.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 842,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853974.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Thr638Ala",
"transcript": "ENST00000942055.1",
"protein_id": "ENSP00000612114.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 842,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942055.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "c.1858A>G",
"hgvs_p": "p.Thr620Ala",
"transcript": "ENST00000853972.1",
"protein_id": "ENSP00000524031.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 824,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853972.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Thr638Ala",
"transcript": "XM_047435292.1",
"protein_id": "XP_047291248.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 842,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435292.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "c.1858A>G",
"hgvs_p": "p.Thr620Ala",
"transcript": "XM_047435293.1",
"protein_id": "XP_047291249.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 824,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "n.*727A>G",
"hgvs_p": null,
"transcript": "ENST00000579728.5",
"protein_id": "ENSP00000463599.1",
"transcript_support_level": 5,
"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": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000579728.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "n.2962A>G",
"hgvs_p": null,
"transcript": "ENST00000583167.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000583167.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "n.2128A>G",
"hgvs_p": null,
"transcript": "XR_934362.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_934362.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"hgvs_c": "n.*727A>G",
"hgvs_p": null,
"transcript": "ENST00000579728.5",
"protein_id": "ENSP00000463599.1",
"transcript_support_level": 5,
"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": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000579728.5"
}
],
"gene_symbol": "OSBPL7",
"gene_hgnc_id": 16387,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6854919195175171,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.6514,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.023,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145798.3",
"gene_symbol": "OSBPL7",
"hgnc_id": 16387,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Thr638Ala"
}
],
"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
}