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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: 19-11061788-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11061788&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"hgvs_c": "c.5012G>A",
"hgvs_p": "p.Arg1671His",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001128849.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1",
"acmg_score": -7,
"allele_count_reference_population": 109,
"alphamissense_prediction": null,
"alphamissense_score": 0.0954,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal dominant 16,Hereditary cancer-predisposing syndrome,Intellectual disability,Otosclerosis 12,Rhabdoid tumor predisposition syndrome 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12407293915748596,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "R",
"aa_start": 1671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 5185,
"cds_end": null,
"cds_length": 5040,
"cds_start": 5012,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001387283.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.5012G>A",
"hgvs_p": "p.Arg1671His",
"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": "H",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "R",
"aa_start": 1671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 5185,
"cds_end": null,
"cds_length": 5040,
"cds_start": 5012,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000646693.2",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.5012G>A",
"hgvs_p": "p.Arg1671His",
"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": "H",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "R",
"aa_start": 1639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 5092,
"cds_end": null,
"cds_length": 4944,
"cds_start": 4916,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_003072.5",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4916G>A",
"hgvs_p": "p.Arg1639His",
"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": "H",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "R",
"aa_start": 1639,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 5092,
"cds_end": null,
"cds_length": 4944,
"cds_start": 4916,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000344626.10",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4916G>A",
"hgvs_p": "p.Arg1639His",
"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": "H",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "R",
"aa_start": 1641,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 5193,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4922,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000643549.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4922G>A",
"hgvs_p": "p.Arg1641His",
"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": "H",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "R",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5139,
"cdna_start": 5111,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4826,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000541122.6",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4826G>A",
"hgvs_p": "p.Arg1609His",
"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": "H",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "R",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": 5075,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4826,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000643296.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4826G>A",
"hgvs_p": "p.Arg1609His",
"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": "H",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "R",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 5097,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4826,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000644737.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4826G>A",
"hgvs_p": "p.Arg1609His",
"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": "H",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "R",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 5153,
"cds_end": null,
"cds_length": 4851,
"cds_start": 4823,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000589677.5",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4823G>A",
"hgvs_p": "p.Arg1608His",
"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": "H",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "R",
"aa_start": 1446,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": 4339,
"cds_end": null,
"cds_length": 4365,
"cds_start": 4337,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000643995.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4337G>A",
"hgvs_p": "p.Arg1446His",
"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": "H",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "R",
"aa_start": 1189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 3567,
"cds_end": null,
"cds_length": 3594,
"cds_start": 3566,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000644963.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3566G>A",
"hgvs_p": "p.Arg1189His",
"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": "H",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "R",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": 3550,
"cds_end": null,
"cds_length": 3576,
"cds_start": 3548,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000644065.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3548G>A",
"hgvs_p": "p.Arg1183His",
"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": "H",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "R",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 3410,
"cds_end": null,
"cds_length": 3438,
"cds_start": 3410,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000642350.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3410G>A",
"hgvs_p": "p.Arg1137His",
"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": "H",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "R",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": 3178,
"cds_end": null,
"cds_length": 3204,
"cds_start": 3176,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000643857.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3176G>A",
"hgvs_p": "p.Arg1059His",
"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": "H",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1108,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1008,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000538456.4",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Arg327His",
"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": 19,
"exon_rank_end": null,
"feature": "ENST00000592604.6",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "n.3157G>A",
"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": "H",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "R",
"aa_start": 1671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5673,
"cdna_start": 5188,
"cds_end": null,
"cds_length": 5040,
"cds_start": 5012,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001128849.3",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.5012G>A",
"hgvs_p": "p.Arg1671His",
"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": "H",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "R",
"aa_start": 1671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5745,
"cdna_start": 5260,
"cds_end": null,
"cds_length": 5040,
"cds_start": 5012,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000711079.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.5012G>A",
"hgvs_p": "p.Arg1671His",
"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": "H",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "R",
"aa_start": 1671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 5477,
"cds_end": null,
"cds_length": 5040,
"cds_start": 5012,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000896343.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.5012G>A",
"hgvs_p": "p.Arg1671His",
"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": "H",
"aa_end": null,
"aa_length": 1669,
"aa_ref": "R",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5671,
"cdna_start": 5186,
"cds_end": null,
"cds_length": 5010,
"cds_start": 4982,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000924728.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4982G>A",
"hgvs_p": "p.Arg1661His",
"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": "H",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "R",
"aa_start": 1641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5403,
"cdna_start": 5127,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4922,
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