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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: 19-11060141-CC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11060141&ref=CC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"hgvs_c": "c.4961_4962delCCinsGA",
"hgvs_p": "p.Ala1654Gly",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001128849.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"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": "G",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "A",
"aa_start": 1654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 5134,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4961,
"consequences": [
"missense_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.4961_4962delCCinsGA",
"hgvs_p": "p.Ala1654Gly",
"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": "G",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "A",
"aa_start": 1654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 5134,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4961,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646693.2",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4961_4962delCCinsGA",
"hgvs_p": "p.Ala1654Gly",
"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": "G",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 5041,
"cds_end": null,
"cds_length": 4944,
"cds_start": 4865,
"consequences": [
"missense_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.4865_4866delCCinsGA",
"hgvs_p": "p.Ala1622Gly",
"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": "G",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 5041,
"cds_end": null,
"cds_length": 4944,
"cds_start": 4865,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000344626.10",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4865_4866delCCinsGA",
"hgvs_p": "p.Ala1622Gly",
"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": "G",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "A",
"aa_start": 1624,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 5142,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4871,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643549.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4871_4872delCCinsGA",
"hgvs_p": "p.Ala1624Gly",
"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": "G",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "A",
"aa_start": 1592,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5139,
"cdna_start": 5060,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4775,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541122.6",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4775_4776delCCinsGA",
"hgvs_p": "p.Ala1592Gly",
"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": "G",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "A",
"aa_start": 1592,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": 5024,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4775,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643296.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4775_4776delCCinsGA",
"hgvs_p": "p.Ala1592Gly",
"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": "G",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "A",
"aa_start": 1592,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 5046,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4775,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644737.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4775_4776delCCinsGA",
"hgvs_p": "p.Ala1592Gly",
"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": "G",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "A",
"aa_start": 1591,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 5102,
"cds_end": null,
"cds_length": 4851,
"cds_start": 4772,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589677.5",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4772_4773delCCinsGA",
"hgvs_p": "p.Ala1591Gly",
"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": "G",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "A",
"aa_start": 1429,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": 4288,
"cds_end": null,
"cds_length": 4365,
"cds_start": 4286,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643995.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4286_4287delCCinsGA",
"hgvs_p": "p.Ala1429Gly",
"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": "G",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "A",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 3516,
"cds_end": null,
"cds_length": 3594,
"cds_start": 3515,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644963.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3515_3516delCCinsGA",
"hgvs_p": "p.Ala1172Gly",
"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": "G",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "A",
"aa_start": 1166,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": 3499,
"cds_end": null,
"cds_length": 3576,
"cds_start": 3497,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644065.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3497_3498delCCinsGA",
"hgvs_p": "p.Ala1166Gly",
"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": "G",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "A",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 3359,
"cds_end": null,
"cds_length": 3438,
"cds_start": 3359,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642350.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3359_3360delCCinsGA",
"hgvs_p": "p.Ala1120Gly",
"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": "G",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "A",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": 3127,
"cds_end": null,
"cds_length": 3204,
"cds_start": 3125,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643857.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.3125_3126delCCinsGA",
"hgvs_p": "p.Ala1042Gly",
"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": "G",
"aa_end": null,
"aa_length": 335,
"aa_ref": "A",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1108,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1008,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538456.4",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.929_930delCCinsGA",
"hgvs_p": "p.Ala310Gly",
"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": 18,
"exon_rank_end": null,
"feature": "ENST00000592604.6",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "n.3106_3107delCCinsGA",
"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": "G",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "A",
"aa_start": 1654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5673,
"cdna_start": 5137,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4961,
"consequences": [
"missense_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.4961_4962delCCinsGA",
"hgvs_p": "p.Ala1654Gly",
"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": "G",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "A",
"aa_start": 1654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5745,
"cdna_start": 5209,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4961,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000711079.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4961_4962delCCinsGA",
"hgvs_p": "p.Ala1654Gly",
"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": "G",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "A",
"aa_start": 1654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 5426,
"cds_end": null,
"cds_length": 5040,
"cds_start": 4961,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896343.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4961_4962delCCinsGA",
"hgvs_p": "p.Ala1654Gly",
"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": "G",
"aa_end": null,
"aa_length": 1669,
"aa_ref": "A",
"aa_start": 1644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5671,
"cdna_start": 5135,
"cds_end": null,
"cds_length": 5010,
"cds_start": 4931,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924728.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.4931_4932delCCinsGA",
"hgvs_p": "p.Ala1644Gly",
"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": "G",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "A",
"aa_start": 1624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5403,
"cdna_start": 5076,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4871,
"consequences": [
"missense_variant"
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