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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: 12-123309546-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123309546&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123309546,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001167856.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3480T>G",
"hgvs_p": "p.Asp1160Glu",
"transcript": "NM_001167856.3",
"protein_id": "NP_001161328.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3480,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000602398.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167856.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3480T>G",
"hgvs_p": "p.Asp1160Glu",
"transcript": "ENST00000602398.3",
"protein_id": "ENSP00000473665.1",
"transcript_support_level": 5,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3480,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001167856.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602398.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3480T>G",
"hgvs_p": "p.Asp1160Glu",
"transcript": "ENST00000420886.6",
"protein_id": "ENSP00000387361.2",
"transcript_support_level": 1,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3480,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420886.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3477T>G",
"hgvs_p": "p.Asp1159Glu",
"transcript": "NM_018183.5",
"protein_id": "NP_060653.3",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3477,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018183.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3477T>G",
"hgvs_p": "p.Asp1159Glu",
"transcript": "ENST00000267176.8",
"protein_id": "ENSP00000267176.4",
"transcript_support_level": 5,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3477,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267176.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3477T>G",
"hgvs_p": "p.Asp1159Glu",
"transcript": "ENST00000934414.1",
"protein_id": "ENSP00000604473.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3477,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934414.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3477T>G",
"hgvs_p": "p.Asp1159Glu",
"transcript": "ENST00000934416.1",
"protein_id": "ENSP00000604475.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3477,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934416.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3477T>G",
"hgvs_p": "p.Asp1159Glu",
"transcript": "ENST00000934419.1",
"protein_id": "ENSP00000604478.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3477,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934419.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3474T>G",
"hgvs_p": "p.Asp1158Glu",
"transcript": "ENST00000949125.1",
"protein_id": "ENSP00000619184.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3474,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949125.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3471T>G",
"hgvs_p": "p.Asp1157Glu",
"transcript": "ENST00000934415.1",
"protein_id": "ENSP00000604474.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1390,
"cds_start": 3471,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934415.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3375T>G",
"hgvs_p": "p.Asp1125Glu",
"transcript": "ENST00000934417.1",
"protein_id": "ENSP00000604476.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3375,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934417.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3375T>G",
"hgvs_p": "p.Asp1125Glu",
"transcript": "ENST00000934418.1",
"protein_id": "ENSP00000604477.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3375,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934418.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"hgvs_c": "c.3372T>G",
"hgvs_p": "p.Asp1124Glu",
"transcript": "ENST00000934420.1",
"protein_id": "ENSP00000604479.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3372,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934420.1"
}
],
"gene_symbol": "SBNO1",
"gene_hgnc_id": 22973,
"dbsnp": "rs147709194",
"frequency_reference_population": 0.0000340778,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.000034891,
"gnomad_genomes_af": 0.0000262712,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.046381473541259766,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.0837,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.564,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001167856.3",
"gene_symbol": "SBNO1",
"hgnc_id": 22973,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3480T>G",
"hgvs_p": "p.Asp1160Glu"
}
],
"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
}