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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: 19-11058847-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11058847&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11058847,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001128849.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4689C>A",
"hgvs_p": "p.Leu1563Leu",
"transcript": "NM_001387283.1",
"protein_id": "NP_001374212.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4689,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000646693.2",
"biotype": "protein_coding",
"feature": "NM_001387283.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4689C>A",
"hgvs_p": "p.Leu1563Leu",
"transcript": "ENST00000646693.2",
"protein_id": "ENSP00000495368.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4689,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001387283.1",
"biotype": "protein_coding",
"feature": "ENST00000646693.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4593C>A",
"hgvs_p": "p.Leu1531Leu",
"transcript": "NM_003072.5",
"protein_id": "NP_003063.2",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4593,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344626.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003072.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4593C>A",
"hgvs_p": "p.Leu1531Leu",
"transcript": "ENST00000344626.10",
"protein_id": "ENSP00000343896.4",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4593,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003072.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344626.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4599C>A",
"hgvs_p": "p.Leu1533Leu",
"transcript": "ENST00000643549.1",
"protein_id": "ENSP00000493975.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4599,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643549.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4503C>A",
"hgvs_p": "p.Leu1501Leu",
"transcript": "ENST00000541122.6",
"protein_id": "ENSP00000445036.2",
"transcript_support_level": 5,
"aa_start": 1501,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4503,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541122.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4503C>A",
"hgvs_p": "p.Leu1501Leu",
"transcript": "ENST00000643296.1",
"protein_id": "ENSP00000496635.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4503,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643296.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4503C>A",
"hgvs_p": "p.Leu1501Leu",
"transcript": "ENST00000644737.1",
"protein_id": "ENSP00000495548.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4503,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644737.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4500C>A",
"hgvs_p": "p.Leu1500Leu",
"transcript": "ENST00000589677.5",
"protein_id": "ENSP00000464778.1",
"transcript_support_level": 5,
"aa_start": 1500,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4500,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589677.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4014C>A",
"hgvs_p": "p.Leu1338Leu",
"transcript": "ENST00000643995.1",
"protein_id": "ENSP00000496004.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4014,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643995.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3243C>A",
"hgvs_p": "p.Leu1081Leu",
"transcript": "ENST00000644963.1",
"protein_id": "ENSP00000495599.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644963.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3225C>A",
"hgvs_p": "p.Leu1075Leu",
"transcript": "ENST00000644065.1",
"protein_id": "ENSP00000493615.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3225,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644065.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3087C>A",
"hgvs_p": "p.Leu1029Leu",
"transcript": "ENST00000642350.1",
"protein_id": "ENSP00000495355.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3087,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2895+484C>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": null,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.699+484C>A",
"hgvs_p": null,
"transcript": "ENST00000538456.4",
"protein_id": "ENSP00000495197.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538456.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.2834C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592604.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4689C>A",
"hgvs_p": "p.Leu1563Leu",
"transcript": "NM_001128849.3",
"protein_id": "NP_001122321.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4689,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128849.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4689C>A",
"hgvs_p": "p.Leu1563Leu",
"transcript": "ENST00000711079.1",
"protein_id": "ENSP00000518564.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4689,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711079.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4689C>A",
"hgvs_p": "p.Leu1563Leu",
"transcript": "ENST00000896343.1",
"protein_id": "ENSP00000566402.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4689,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896343.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4686C>A",
"hgvs_p": "p.Leu1562Leu",
"transcript": "ENST00000924728.1",
"protein_id": "ENSP00000594787.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1669,
"cds_start": 4686,
"cds_end": null,
"cds_length": 5010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924728.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4599C>A",
"hgvs_p": "p.Leu1533Leu",
"transcript": "ENST00000924742.1",
"protein_id": "ENSP00000594801.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4599,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924742.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4596C>A",
"hgvs_p": "p.Leu1532Leu",
"transcript": "ENST00000924719.1",
"protein_id": "ENSP00000594778.1",
"transcript_support_level": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.3,
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{
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"BP4_Moderate",
"BP7"
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"verdict": "Likely_benign",
"transcript": "NM_001128849.3",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}