← 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: 2-120984454-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=120984454&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 120984454,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000361492.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1633-17C>T",
"hgvs_p": null,
"transcript": "NM_001374353.1",
"protein_id": "NP_001361282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1569,
"cds_start": -4,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": "ENST00000361492.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1633-17C>T",
"hgvs_p": null,
"transcript": "ENST00000361492.9",
"protein_id": "ENSP00000354586.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1569,
"cds_start": -4,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": "NM_001374353.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1684-17C>T",
"hgvs_p": null,
"transcript": "NM_001371271.1",
"protein_id": "NP_001358200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1586,
"cds_start": -4,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1684-17C>T",
"hgvs_p": null,
"transcript": "NM_005270.5",
"protein_id": "NP_005261.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1586,
"cds_start": -4,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1684-17C>T",
"hgvs_p": null,
"transcript": "ENST00000452319.6",
"protein_id": "ENSP00000390436.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1586,
"cds_start": -4,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1258-17C>T",
"hgvs_p": null,
"transcript": "NM_001374354.1",
"protein_id": "NP_001361283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1444,
"cds_start": -4,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7030,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*732-17C>T",
"hgvs_p": null,
"transcript": "ENST00000341310.10",
"protein_id": "ENSP00000344473.6",
"transcript_support_level": 2,
"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": 4904,
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*783-17C>T",
"hgvs_p": null,
"transcript": "ENST00000437950.5",
"protein_id": "ENSP00000415773.1",
"transcript_support_level": 2,
"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": 1904,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*783-17C>T",
"hgvs_p": null,
"transcript": "ENST00000438299.5",
"protein_id": "ENSP00000400593.1",
"transcript_support_level": 5,
"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": 3724,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*783-17C>T",
"hgvs_p": null,
"transcript": "ENST00000445186.5",
"protein_id": "ENSP00000397488.1",
"transcript_support_level": 5,
"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": 4955,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*732-17C>T",
"hgvs_p": null,
"transcript": "ENST00000452692.5",
"protein_id": "ENSP00000403715.1",
"transcript_support_level": 5,
"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": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1666-17C>T",
"hgvs_p": null,
"transcript": "XM_011510969.3",
"protein_id": "XP_011509271.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1580,
"cds_start": -4,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1633-17C>T",
"hgvs_p": null,
"transcript": "XM_047443947.1",
"protein_id": "XP_047299903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1569,
"cds_start": -4,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1615-17C>T",
"hgvs_p": null,
"transcript": "XM_017003818.2",
"protein_id": "XP_016859307.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1563,
"cds_start": -4,
"cds_end": null,
"cds_length": 4692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1489-17C>T",
"hgvs_p": null,
"transcript": "XM_011510971.3",
"protein_id": "XP_011509273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1521,
"cds_start": -4,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"dbsnp": "rs78949549",
"frequency_reference_population": 0.0032529936,
"hom_count_reference_population": 143,
"allele_count_reference_population": 5250,
"gnomad_exomes_af": 0.00186097,
"gnomad_genomes_af": 0.0166126,
"gnomad_exomes_ac": 2720,
"gnomad_genomes_ac": 2530,
"gnomad_exomes_homalt": 74,
"gnomad_genomes_homalt": 69,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"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": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.974,
"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": "ENST00000361492.9",
"gene_symbol": "GLI2",
"hgnc_id": 4318,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1633-17C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Holoprosencephaly 9,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome;Holoprosencephaly 9",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}