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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: 22-23803400-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23803400&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SMARCB1",
"hgnc_id": 11103,
"hgvs_c": "c.660C>T",
"hgvs_p": "p.Asp220Asp",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001362877.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "22",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.550000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5191,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1158,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003073.5",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asp202Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644036.2",
"protein_coding": true,
"protein_id": "NP_003064.2",
"strand": true,
"transcript": "NM_003073.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5191,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1158,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644036.2",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asp202Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003073.5",
"protein_coding": true,
"protein_id": "ENSP00000494049.2",
"strand": true,
"transcript": "ENST00000644036.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 376,
"aa_ref": "D",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 818,
"cds_end": null,
"cds_length": 1131,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000407422.8",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Asp193Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383984.3",
"strand": true,
"transcript": "ENST00000407422.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 339,
"aa_ref": "D",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1500,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1020,
"cds_start": 468,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000263121.12",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.468C>T",
"hgvs_p": "p.Asp156Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263121.8",
"strand": true,
"transcript": "ENST00000263121.12",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 403,
"aa_ref": "D",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1212,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001362877.2",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.Asp220Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349806.1",
"strand": true,
"transcript": "NM_001362877.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 402,
"aa_ref": "D",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1209,
"cds_start": 657,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877795.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.657C>T",
"hgvs_p": "p.Asp219Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547854.1",
"strand": true,
"transcript": "ENST00000877795.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 395,
"aa_ref": "D",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1188,
"cds_start": 636,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877796.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asp212Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547855.1",
"strand": true,
"transcript": "ENST00000877796.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 394,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5218,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1185,
"cds_start": 633,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001317946.2",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Asp211Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304875.1",
"strand": true,
"transcript": "NM_001317946.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 394,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1185,
"cds_start": 633,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000344921.11",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Asp211Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340883.6",
"strand": true,
"transcript": "ENST00000344921.11",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 393,
"aa_ref": "D",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1182,
"cds_start": 630,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877792.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.630C>T",
"hgvs_p": "p.Asp210Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547851.1",
"strand": true,
"transcript": "ENST00000877792.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 386,
"aa_ref": "D",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1161,
"cds_start": 609,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877797.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.609C>T",
"hgvs_p": "p.Asp203Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547856.1",
"strand": true,
"transcript": "ENST00000877797.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 377,
"aa_ref": "D",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1134,
"cds_start": 582,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877793.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Asp194Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547852.1",
"strand": true,
"transcript": "ENST00000877793.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 376,
"aa_ref": "D",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5164,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1131,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001007468.3",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Asp193Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007469.1",
"strand": true,
"transcript": "NM_001007468.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1128,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000923808.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asp202Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593867.1",
"strand": true,
"transcript": "ENST00000923808.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 370,
"aa_ref": "D",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1113,
"cds_start": 561,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948392.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.561C>T",
"hgvs_p": "p.Asp187Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618451.1",
"strand": true,
"transcript": "ENST00000948392.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 366,
"aa_ref": "D",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 789,
"cds_end": null,
"cds_length": 1101,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877791.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Asp193Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547850.1",
"strand": true,
"transcript": "ENST00000877791.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1098,
"cds_start": 546,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948393.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.546C>T",
"hgvs_p": "p.Asp182Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618452.1",
"strand": true,
"transcript": "ENST00000948393.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1071,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877794.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.519C>T",
"hgvs_p": "p.Asp173Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547853.1",
"strand": true,
"transcript": "ENST00000877794.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 247,
"aa_ref": "D",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": 803,
"cds_end": null,
"cds_length": 746,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000417137.6",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.Asp220Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388489.2",
"strand": true,
"transcript": "ENST00000417137.6",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 146,
"aa_ref": "D",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 595,
"cdna_start": 594,
"cds_end": null,
"cds_length": 442,
"cds_start": 441,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000407082.4",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Asp147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385226.4",
"strand": true,
"transcript": "ENST00000407082.4",
"transcript_support_level": 5
},
{
"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": 1285,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000642275.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
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