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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: 19-11059780-TCG-AGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11059780&ref=TCG&alt=AGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"hgvs_c": "c.4759_4761delTCGinsAGT",
"hgvs_p": "p.1588",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001128849.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "S",
"aa_start": 1587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 4932,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4759,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387283.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4759_4761delTCGinsAGT",
"hgvs_p": "p.1588",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000646693.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374212.1",
"strand": true,
"transcript": "NM_001387283.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "S",
"aa_start": 1587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 4932,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4759,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646693.2",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4759_4761delTCGinsAGT",
"hgvs_p": "p.1588",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001387283.1",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495368.1",
"strand": true,
"transcript": "ENST00000646693.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "S",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 4839,
"cds_end": null,
"cds_length": 4944,
"cds_start": 4663,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003072.5",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4663_4665delTCGinsAGT",
"hgvs_p": "p.1556",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344626.10",
"protein_coding": true,
"protein_id": "NP_003063.2",
"strand": true,
"transcript": "NM_003072.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "S",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 4839,
"cds_end": null,
"cds_length": 4944,
"cds_start": 4663,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000344626.10",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4663_4665delTCGinsAGT",
"hgvs_p": "p.1556",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003072.5",
"protein_coding": true,
"protein_id": "ENSP00000343896.4",
"strand": true,
"transcript": "ENST00000344626.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "S",
"aa_start": 1557,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 4940,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4669,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643549.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4669_4671delTCGinsAGT",
"hgvs_p": "p.1558",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493975.1",
"strand": true,
"transcript": "ENST00000643549.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "S",
"aa_start": 1525,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5139,
"cdna_start": 4858,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4573,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541122.6",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4573_4575delTCGinsAGT",
"hgvs_p": "p.1526",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445036.2",
"strand": true,
"transcript": "ENST00000541122.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "S",
"aa_start": 1525,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": 4822,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4573,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643296.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4573_4575delTCGinsAGT",
"hgvs_p": "p.1526",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496635.1",
"strand": true,
"transcript": "ENST00000643296.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "S",
"aa_start": 1525,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 4844,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4573,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644737.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4573_4575delTCGinsAGT",
"hgvs_p": "p.1526",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495548.1",
"strand": true,
"transcript": "ENST00000644737.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "S",
"aa_start": 1524,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 4900,
"cds_end": null,
"cds_length": 4851,
"cds_start": 4570,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589677.5",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4570_4572delTCGinsAGT",
"hgvs_p": "p.1525",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464778.1",
"strand": true,
"transcript": "ENST00000589677.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "S",
"aa_start": 1362,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": 4086,
"cds_end": null,
"cds_length": 4365,
"cds_start": 4084,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643995.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4084_4086delTCGinsAGT",
"hgvs_p": "p.1363",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496004.1",
"strand": true,
"transcript": "ENST00000643995.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 3314,
"cds_end": null,
"cds_length": 3594,
"cds_start": 3313,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644963.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3313_3315delTCGinsAGT",
"hgvs_p": "p.1106",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495599.1",
"strand": true,
"transcript": "ENST00000644963.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "S",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": 3297,
"cds_end": null,
"cds_length": 3576,
"cds_start": 3295,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644065.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3295_3297delTCGinsAGT",
"hgvs_p": "p.1100",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493615.1",
"strand": true,
"transcript": "ENST00000644065.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "S",
"aa_start": 1053,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 3157,
"cds_end": null,
"cds_length": 3438,
"cds_start": 3157,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642350.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3157_3159delTCGinsAGT",
"hgvs_p": "p.1054",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495355.1",
"strand": true,
"transcript": "ENST00000642350.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "S",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": 2925,
"cds_end": null,
"cds_length": 3204,
"cds_start": 2923,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643857.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.2923_2925delTCGinsAGT",
"hgvs_p": "p.976",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494159.1",
"strand": true,
"transcript": "ENST00000643857.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 335,
"aa_ref": "S",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1108,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1008,
"cds_start": 727,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538456.4",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.727_729delTCGinsAGT",
"hgvs_p": "p.244",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495197.1",
"strand": true,
"transcript": "ENST00000538456.4",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000592604.6",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "n.2904_2906delTCGinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000592604.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "S",
"aa_start": 1587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5673,
"cdna_start": 4935,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4759,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001128849.3",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4759_4761delTCGinsAGT",
"hgvs_p": "p.1588",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122321.1",
"strand": true,
"transcript": "NM_001128849.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "S",
"aa_start": 1587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5745,
"cdna_start": 5007,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4759,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000711079.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4759_4761delTCGinsAGT",
"hgvs_p": "p.1588",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518564.1",
"strand": true,
"transcript": "ENST00000711079.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "S",
"aa_start": 1587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 5224,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4759,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896343.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4759_4761delTCGinsAGT",
"hgvs_p": "p.1588",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566402.1",
"strand": true,
"transcript": "ENST00000896343.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1669,
"aa_ref": "S",
"aa_start": 1577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5671,
"cdna_start": 4933,
"cds_end": null,
"cds_length": 5010,
"cds_start": 4729,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924728.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4729_4731delTCGinsAGT",
"hgvs_p": "p.1578",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594787.1",
"strand": true,
"transcript": "ENST00000924728.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "S",
"aa_start": 1557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5403,
"cdna_start": 4874,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4669,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
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