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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: 22-23800950-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23800950&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 23800950,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000644036.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.369G>A",
"hgvs_p": "p.Gln123Gln",
"transcript": "NM_003073.5",
"protein_id": "NP_003064.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 385,
"cds_start": 369,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": "ENST00000644036.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.369G>A",
"hgvs_p": "p.Gln123Gln",
"transcript": "ENST00000644036.2",
"protein_id": "ENSP00000494049.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 385,
"cds_start": 369,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": "NM_003073.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Gln114Gln",
"transcript": "ENST00000407422.8",
"protein_id": "ENSP00000383984.3",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 376,
"cds_start": 342,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.219G>A",
"hgvs_p": "p.Gln73Gln",
"transcript": "ENST00000634926.1",
"protein_id": "ENSP00000489445.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 88,
"cds_start": 219,
"cds_end": null,
"cds_length": 267,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Gln64Gln",
"transcript": "ENST00000635578.1",
"protein_id": "ENSP00000489115.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 79,
"cds_start": 192,
"cds_end": null,
"cds_length": 240,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.532G>A",
"hgvs_p": null,
"transcript": "ENST00000491967.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 1642,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.363-2345G>A",
"hgvs_p": null,
"transcript": "ENST00000263121.12",
"protein_id": "ENSP00000263121.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.369G>A",
"hgvs_p": "p.Gln123Gln",
"transcript": "NM_001362877.2",
"protein_id": "NP_001349806.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 403,
"cds_start": 369,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Gln114Gln",
"transcript": "NM_001317946.2",
"protein_id": "NP_001304875.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 394,
"cds_start": 342,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Gln114Gln",
"transcript": "ENST00000344921.11",
"protein_id": "ENSP00000340883.6",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 394,
"cds_start": 342,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Gln114Gln",
"transcript": "NM_001007468.3",
"protein_id": "NP_001007469.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 376,
"cds_start": 342,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.369G>A",
"hgvs_p": "p.Gln123Gln",
"transcript": "ENST00000417137.6",
"protein_id": "ENSP00000388489.2",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 247,
"cds_start": 369,
"cds_end": null,
"cds_length": 746,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.337G>A",
"hgvs_p": null,
"transcript": "ENST00000643421.1",
"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": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.204G>A",
"hgvs_p": null,
"transcript": "ENST00000644462.1",
"protein_id": "ENSP00000494283.1",
"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": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.369G>A",
"hgvs_p": null,
"transcript": "ENST00000644619.1",
"protein_id": "ENSP00000494695.1",
"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": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.2225G>A",
"hgvs_p": null,
"transcript": "ENST00000646421.1",
"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": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.357G>A",
"hgvs_p": null,
"transcript": "ENST00000646723.1",
"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": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.281G>A",
"hgvs_p": null,
"transcript": "ENST00000646911.1",
"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": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.100G>A",
"hgvs_p": null,
"transcript": "ENST00000647057.1",
"protein_id": "ENSP00000494757.1",
"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": 1401,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.336-2345G>A",
"hgvs_p": null,
"transcript": "ENST00000407082.4",
"protein_id": "ENSP00000385226.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"dbsnp": "rs760015392",
"frequency_reference_population": 0.0000055783303,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000342184,
"gnomad_genomes_af": 0.000026284,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.027,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000644036.2",
"gene_symbol": "SMARCB1",
"hgnc_id": 11103,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.369G>A",
"hgvs_p": "p.Gln123Gln"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}