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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: 19-1123379-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1123379&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1123379,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_014963.3",
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "NM_014963.3",
"protein_id": "NP_055778.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": "ENST00000361757.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014963.3"
},
{
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "ENST00000361757.8",
"protein_id": "ENSP00000354733.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": "NM_014963.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361757.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "n.481+155T>G",
"hgvs_p": null,
"transcript": "ENST00000592222.5",
"protein_id": null,
"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": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592222.5"
},
{
"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": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "ENST00000954690.1",
"protein_id": "ENSP00000624749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": null,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954690.1"
},
{
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "ENST00000935177.1",
"protein_id": "ENSP00000605236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935177.1"
},
{
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "ENST00000954693.1",
"protein_id": "ENSP00000624752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954693.1"
},
{
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "ENST00000954694.1",
"protein_id": "ENSP00000624753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954694.1"
},
{
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "ENST00000954691.1",
"protein_id": "ENSP00000624750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": null,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954691.1"
},
{
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.622+155T>G",
"hgvs_p": null,
"transcript": "ENST00000935176.1",
"protein_id": "ENSP00000605235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1364,
"cds_start": null,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935176.1"
},
{
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "ENST00000587024.5",
"protein_id": "ENSP00000468520.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1356,
"cds_start": null,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587024.5"
},
{
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.595+155T>G",
"hgvs_p": null,
"transcript": "ENST00000954692.1",
"protein_id": "ENSP00000624751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1355,
"cds_start": null,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954692.1"
},
{
"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": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "ENST00000935175.1",
"protein_id": "ENSP00000605234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1322,
"cds_start": null,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935175.1"
},
{
"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": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "ENST00000954695.1",
"protein_id": "ENSP00000624754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1322,
"cds_start": null,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954695.1"
},
{
"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": 29,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.457+155T>G",
"hgvs_p": null,
"transcript": "NM_001100122.2",
"protein_id": "NP_001093592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1309,
"cds_start": null,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100122.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.457+155T>G",
"hgvs_p": null,
"transcript": "ENST00000438103.6",
"protein_id": "ENSP00000400762.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1309,
"cds_start": null,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
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"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438103.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "XM_011527804.4",
"protein_id": "XP_011526106.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1221,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527804.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.-570+155T>G",
"hgvs_p": null,
"transcript": "XM_047438466.1",
"protein_id": "XP_047294422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 967,
"cds_start": null,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
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"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438466.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"hgvs_c": "c.628+155T>G",
"hgvs_p": null,
"transcript": "XM_047438467.1",
"protein_id": "XP_047294423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": null,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438467.1"
}
],
"gene_symbol": "SBNO2",
"gene_hgnc_id": 29158,
"dbsnp": "rs4807569",
"frequency_reference_population": 0.25216797,
"hom_count_reference_population": 5074,
"allele_count_reference_population": 38326,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.252168,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 38326,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5074,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"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": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.525,
"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": "NM_014963.3",
"gene_symbol": "SBNO2",
"hgnc_id": 29158,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.628+155T>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
}