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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: 10-29489341-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=29489341&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 29489341,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000355867.9",
"consequences": [
{
"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": 38,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.4193-585A>C",
"hgvs_p": null,
"transcript": "NM_021738.3",
"protein_id": "NP_068506.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2214,
"cds_start": -4,
"cds_end": null,
"cds_length": 6645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8306,
"mane_select": "ENST00000355867.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.4193-585A>C",
"hgvs_p": null,
"transcript": "ENST00000355867.9",
"protein_id": "ENSP00000348128.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2214,
"cds_start": -4,
"cds_end": null,
"cds_length": 6645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8306,
"mane_select": "NM_021738.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 36,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.2915-585A>C",
"hgvs_p": null,
"transcript": "ENST00000375400.7",
"protein_id": "ENSP00000364549.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1788,
"cds_start": -4,
"cds_end": null,
"cds_length": 5367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.4097-585A>C",
"hgvs_p": null,
"transcript": "ENST00000375398.6",
"protein_id": "ENSP00000364547.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2182,
"cds_start": -4,
"cds_end": null,
"cds_length": 6549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.3263-585A>C",
"hgvs_p": null,
"transcript": "NM_001323599.2",
"protein_id": "NP_001310528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1904,
"cds_start": -4,
"cds_end": null,
"cds_length": 5715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.3263-585A>C",
"hgvs_p": null,
"transcript": "ENST00000674475.1",
"protein_id": "ENSP00000501521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1904,
"cds_start": -4,
"cds_end": null,
"cds_length": 5715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.3011-585A>C",
"hgvs_p": null,
"transcript": "NM_001323600.1",
"protein_id": "NP_001310529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1820,
"cds_start": -4,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 36,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.2915-585A>C",
"hgvs_p": null,
"transcript": "NM_003174.3",
"protein_id": "NP_003165.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1788,
"cds_start": -4,
"cds_end": null,
"cds_length": 5367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.968-585A>C",
"hgvs_p": null,
"transcript": "ENST00000632315.1",
"protein_id": "ENSP00000488171.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": -4,
"cds_end": null,
"cds_length": 2887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.238-21087T>G",
"hgvs_p": null,
"transcript": "ENST00000684815.2",
"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": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.184-3622T>G",
"hgvs_p": null,
"transcript": "ENST00000687838.2",
"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": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.124-49940T>G",
"hgvs_p": null,
"transcript": "ENST00000729321.1",
"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": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.182-21087T>G",
"hgvs_p": null,
"transcript": "ENST00000729322.1",
"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": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.139-21050T>G",
"hgvs_p": null,
"transcript": "ENST00000729323.1",
"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": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.205-21050T>G",
"hgvs_p": null,
"transcript": "ENST00000729324.1",
"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": 1363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.159-3622T>G",
"hgvs_p": null,
"transcript": "ENST00000729325.1",
"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": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"dbsnp": "rs12358834",
"frequency_reference_population": 0.09494785,
"hom_count_reference_population": 867,
"allele_count_reference_population": 14456,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0949478,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 14456,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 867,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.502,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355867.9",
"gene_symbol": "SVIL",
"hgnc_id": 11480,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4193-585A>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000684815.2",
"gene_symbol": "SVIL-AS1",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.238-21087T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}