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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: 17-40628942-CCTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40628942&ref=CCTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40628942,
"ref": "CCTT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000348513.12",
"consequences": [
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1076_1078delAAG",
"hgvs_p": "p.Glu359del",
"transcript": "NM_003079.5",
"protein_id": "NP_003070.3",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 411,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": "ENST00000348513.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1076_1078delAAG",
"hgvs_p": "p.Glu359del",
"transcript": "ENST00000348513.12",
"protein_id": "ENSP00000323967.6",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 411,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": "NM_003079.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.866_868delAAG",
"hgvs_p": "p.Glu289del",
"transcript": "ENST00000578044.6",
"protein_id": "ENSP00000464511.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 341,
"cds_start": 866,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264058",
"gene_hgnc_id": null,
"hgvs_c": "n.*1424_*1426delAAG",
"hgvs_p": null,
"transcript": "ENST00000476049.1",
"protein_id": "ENSP00000463483.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.*63_*65delAAG",
"hgvs_p": null,
"transcript": "ENST00000377808.9",
"protein_id": "ENSP00000367039.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.*55_*57delAAG",
"hgvs_p": null,
"transcript": "ENST00000580419.6",
"protein_id": "ENSP00000462475.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.*63_*65delAAG",
"hgvs_p": null,
"transcript": "ENST00000400122.8",
"protein_id": "ENSP00000411607.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264058",
"gene_hgnc_id": null,
"hgvs_c": "n.*1424_*1426delAAG",
"hgvs_p": null,
"transcript": "ENST00000476049.1",
"protein_id": "ENSP00000463483.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1076_1078delAAG",
"hgvs_p": "p.Glu359del",
"transcript": "ENST00000643683.1",
"protein_id": "ENSP00000496094.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 411,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.1022_1024delAAG",
"hgvs_p": "p.Glu341del",
"transcript": "ENST00000431889.6",
"protein_id": "ENSP00000445370.1",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 393,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.971_973delAAG",
"hgvs_p": "p.Glu324del",
"transcript": "ENST00000647508.1",
"protein_id": "ENSP00000496445.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 376,
"cds_start": 971,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.884_886delAAG",
"hgvs_p": "p.Glu295del",
"transcript": "ENST00000646283.1",
"protein_id": "ENSP00000494537.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 347,
"cds_start": 884,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.866_868delAAG",
"hgvs_p": "p.Glu289del",
"transcript": "ENST00000643318.1",
"protein_id": "ENSP00000494771.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 341,
"cds_start": 866,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 5796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.848_850delAAG",
"hgvs_p": "p.Glu283del",
"transcript": "ENST00000644527.1",
"protein_id": "ENSP00000493974.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 335,
"cds_start": 848,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.1674_1676delAAG",
"hgvs_p": null,
"transcript": "ENST00000469334.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.*873_*875delAAG",
"hgvs_p": null,
"transcript": "ENST00000578112.6",
"protein_id": "ENSP00000464501.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.2219_2221delAAG",
"hgvs_p": null,
"transcript": "ENST00000642576.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.1699_1701delAAG",
"hgvs_p": null,
"transcript": "ENST00000643030.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264058",
"gene_hgnc_id": null,
"hgvs_c": "n.*3140_*3142delAAG",
"hgvs_p": null,
"transcript": "ENST00000643255.1",
"protein_id": "ENSP00000493957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.1631_1633delAAG",
"hgvs_p": null,
"transcript": "ENST00000643378.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.1369_1371delAAG",
"hgvs_p": null,
"transcript": "ENST00000643893.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.2964_2966delAAG",
"hgvs_p": null,
"transcript": "ENST00000644443.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
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{
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "Familial meningioma|Hereditary cancer-predisposing syndrome|SMARCE1-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}