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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: 4-20493512-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=20493512&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 20493512,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000504154.6",
"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": 37,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.914+1613C>T",
"hgvs_p": null,
"transcript": "NM_004787.4",
"protein_id": "NP_004778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1529,
"cds_start": -4,
"cds_end": null,
"cds_length": 4590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": "ENST00000504154.6",
"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": 37,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.914+1613C>T",
"hgvs_p": null,
"transcript": "ENST00000504154.6",
"protein_id": "ENSP00000422591.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1529,
"cds_start": -4,
"cds_end": null,
"cds_length": 4590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": "NM_004787.4",
"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": 37,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.926+1613C>T",
"hgvs_p": null,
"transcript": "ENST00000503837.5",
"protein_id": "ENSP00000422261.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": -4,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4752,
"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": 36,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.914+1613C>T",
"hgvs_p": null,
"transcript": "ENST00000503823.5",
"protein_id": "ENSP00000427548.1",
"transcript_support_level": 1,
"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": 5233,
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.926+1613C>T",
"hgvs_p": null,
"transcript": "ENST00000273739.9",
"protein_id": "ENSP00000273739.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1542,
"cds_start": -4,
"cds_end": null,
"cds_length": 4629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5132,
"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": 37,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.926+1613C>T",
"hgvs_p": null,
"transcript": "NM_001289135.3",
"protein_id": "NP_001276064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": -4,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8041,
"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": 36,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.914+1613C>T",
"hgvs_p": null,
"transcript": "NM_001289136.3",
"protein_id": "NP_001276065.1",
"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": 8029,
"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": 37,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.668+1613C>T",
"hgvs_p": null,
"transcript": "ENST00000622093.4",
"protein_id": "ENSP00000482129.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": -4,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6380,
"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": 38,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.926+1613C>T",
"hgvs_p": null,
"transcript": "XM_005248211.3",
"protein_id": "XP_005248268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1533,
"cds_start": -4,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8065,
"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": 37,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.926+1613C>T",
"hgvs_p": null,
"transcript": "XM_006713986.3",
"protein_id": "XP_006714049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1509,
"cds_start": -4,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7993,
"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": 38,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.824+1613C>T",
"hgvs_p": null,
"transcript": "XM_011513909.3",
"protein_id": "XP_011512211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1499,
"cds_start": -4,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6121,
"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": 37,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.812+1613C>T",
"hgvs_p": null,
"transcript": "XM_017008845.2",
"protein_id": "XP_016864334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1495,
"cds_start": -4,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"dbsnp": "rs666088",
"frequency_reference_population": 0.75486547,
"hom_count_reference_population": 43568,
"allele_count_reference_population": 114732,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.754865,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 114732,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 43568,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.695,
"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": "ENST00000504154.6",
"gene_symbol": "SLIT2",
"hgnc_id": 11086,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.914+1613C>T",
"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
}