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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: 19-11023515-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11023515&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11023515,
"ref": "C",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_003072.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "NM_001387283.1",
"protein_id": "NP_001374212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": "ENST00000646693.2",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000646693.2",
"protein_id": "ENSP00000495368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": "NM_001387283.1",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "NM_003072.5",
"protein_id": "NP_003063.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1647,
"cds_start": -4,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "ENST00000344626.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000344626.10",
"protein_id": "ENSP00000343896.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1647,
"cds_start": -4,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "NM_003072.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000643549.1",
"protein_id": "ENSP00000493975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1649,
"cds_start": -4,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000541122.6",
"protein_id": "ENSP00000445036.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1617,
"cds_start": -4,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000643296.1",
"protein_id": "ENSP00000496635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1617,
"cds_start": -4,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000644737.1",
"protein_id": "ENSP00000495548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1617,
"cds_start": -4,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000589677.5",
"protein_id": "ENSP00000464778.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1616,
"cds_start": -4,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2272-3C>A",
"hgvs_p": null,
"transcript": "ENST00000643995.1",
"protein_id": "ENSP00000496004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.1504-3C>A",
"hgvs_p": null,
"transcript": "ENST00000644963.1",
"protein_id": "ENSP00000495599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1197,
"cds_start": -4,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.1585-3C>A",
"hgvs_p": null,
"transcript": "ENST00000644065.1",
"protein_id": "ENSP00000493615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.1345-3C>A",
"hgvs_p": null,
"transcript": "ENST00000642350.1",
"protein_id": "ENSP00000495355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1145,
"cds_start": -4,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.1213-3C>A",
"hgvs_p": null,
"transcript": "ENST00000643857.1",
"protein_id": "ENSP00000494159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1067,
"cds_start": -4,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.1191-3C>A",
"hgvs_p": null,
"transcript": "ENST00000592604.6",
"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": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "NM_001128849.3",
"protein_id": "NP_001122321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000711079.1",
"protein_id": "ENSP00000518564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "NM_001128844.3",
"protein_id": "NP_001122316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1647,
"cds_start": -4,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000429416.8",
"protein_id": "ENSP00000395654.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1647,
"cds_start": -4,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "NM_001411150.1",
"protein_id": "NP_001398079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1646,
"cds_start": -4,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000642628.1",
"protein_id": "ENSP00000496498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1646,
"cds_start": -4,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2860-3C>A",
"hgvs_p": null,
"transcript": "ENST00000642726.1",
"protein_id": "ENSP00000494353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1646,
"cds_start": -4,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCA4",
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"dbsnp": "rs757292816",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.8740000128746033,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.904,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.993026790087841,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003072.5",
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2860-3C>A",
"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
}