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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: 19-10996361-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10996361&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001128849.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8167,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Rhabdoid tumor predisposition syndrome 2",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.37377873063087463,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 5040,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001387283.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 5040,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000646693.2",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 4944,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_003072.5",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 4944,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000344626.10",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 4950,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000643549.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5139,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 4854,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000541122.6",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 4854,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000643296.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 4854,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000644737.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 4851,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000589677.5",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "K",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 4365,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643995.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1154A>C",
"hgvs_p": "p.Lys385Thr",
"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": "T",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "K",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 387,
"cds_end": null,
"cds_length": 3594,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000644963.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Lys129Thr",
"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": "T",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "K",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": 472,
"cds_end": null,
"cds_length": 3576,
"cds_start": 470,
"consequences": [
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],
"exon_count": 27,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000644065.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.470A>C",
"hgvs_p": "p.Lys157Thr",
"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": "T",
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"aa_length": 1145,
"aa_ref": "K",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 230,
"cds_end": null,
"cds_length": 3438,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000642350.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.230A>C",
"hgvs_p": "p.Lys77Thr",
"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": "T",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "K",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": 97,
"cds_end": null,
"cds_length": 3204,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000643857.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.95A>C",
"hgvs_p": "p.Lys32Thr",
"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": "T",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5673,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 5040,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001128849.3",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5745,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 5040,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000711079.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
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"aa_length": 1679,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 2207,
"cds_end": null,
"cds_length": 5040,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896343.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
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"aa_length": 1669,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5671,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 5010,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924728.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"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": "T",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5403,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 4950,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924742.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594801.1",
"strand": true,
"transcript": "ENST00000924742.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1648,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 4947,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924719.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Lys581Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594778.1",
"strand": true,
"transcript": "ENST00000924719.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1648,
"aa_ref": "K",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5549,
"cdna_start": 1887,
"cds_end": null,
"cds_length": 4947,
"cds_start": 1742,
"consequences": [
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