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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: 22-23816931-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23816931&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"PM2",
"BP4",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMARCB1",
"hgnc_id": 11103,
"hgvs_c": "c.844A>G",
"hgvs_p": "p.Ile282Val",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 2,
"transcript": "NM_001362877.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4,BP6",
"acmg_score": 2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.1016,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "22",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal dominant 15,Hereditary cancer-predisposing syndrome,Intellectual disability,Rhabdoid tumor predisposition syndrome 1,SMARCB1-related schwannomatosis,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.39031559228897095,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 385,
"aa_ref": "I",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5191,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1158,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003073.5",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.790A>G",
"hgvs_p": "p.Ile264Val",
"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": "V",
"aa_end": null,
"aa_length": 385,
"aa_ref": "I",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5191,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1158,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000644036.2",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.790A>G",
"hgvs_p": "p.Ile264Val",
"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": "V",
"aa_end": null,
"aa_length": 376,
"aa_ref": "I",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1131,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000407422.8",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.763A>G",
"hgvs_p": "p.Ile255Val",
"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": "V",
"aa_end": null,
"aa_length": 339,
"aa_ref": "I",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1500,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1020,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000263121.12",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Ile218Val",
"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": "V",
"aa_end": null,
"aa_length": 403,
"aa_ref": "I",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1212,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001362877.2",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.844A>G",
"hgvs_p": "p.Ile282Val",
"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": "V",
"aa_end": null,
"aa_length": 402,
"aa_ref": "I",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1209,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000877795.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.841A>G",
"hgvs_p": "p.Ile281Val",
"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": "V",
"aa_end": null,
"aa_length": 395,
"aa_ref": "I",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1188,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877796.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Ile274Val",
"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": "V",
"aa_end": null,
"aa_length": 394,
"aa_ref": "I",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5218,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1185,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001317946.2",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"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": "V",
"aa_end": null,
"aa_length": 394,
"aa_ref": "I",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1185,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000344921.11",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"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": "V",
"aa_end": null,
"aa_length": 393,
"aa_ref": "I",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1182,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000877792.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"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": "V",
"aa_end": null,
"aa_length": 386,
"aa_ref": "I",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1161,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877797.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Ile265Val",
"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": "V",
"aa_end": null,
"aa_length": 377,
"aa_ref": "I",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1134,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877793.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Ile256Val",
"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": "V",
"aa_end": null,
"aa_length": 376,
"aa_ref": "I",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5164,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1131,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001007468.3",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.763A>G",
"hgvs_p": "p.Ile255Val",
"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": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "I",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1128,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923808.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"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": "V",
"aa_end": null,
"aa_length": 370,
"aa_ref": "I",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1113,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948392.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.745A>G",
"hgvs_p": "p.Ile249Val",
"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": "V",
"aa_end": null,
"aa_length": 366,
"aa_ref": "I",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1101,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877791.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Ile245Val",
"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": "V",
"aa_end": null,
"aa_length": 365,
"aa_ref": "I",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1098,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948393.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Ile244Val",
"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": "V",
"aa_end": null,
"aa_length": 356,
"aa_ref": "I",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1071,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000877794.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"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": "ENST00000477836.2",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "n.1941A>G",
"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": "ENST00000477836.2",
"transcript_support_level": 2
},
{
"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": 2,
"exon_rank_end": null,
"feature": "ENST00000642275.1",
"gene_hgnc_id": 11103,
"gene_symbol": "SMARCB1",
"hgvs_c": "n.1038A>G",
"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": "ENST00000642275.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644462.1",
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]
}