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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: 13-32396979-ACT-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32396979&ref=ACT&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "BRCA2",
"hgnc_id": 1101,
"hgvs_c": "c.9583_9585delACTinsTCG",
"hgvs_p": "p.Thr3195Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000059.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"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": "S",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "T",
"aa_start": 3195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11954,
"cdna_start": 9782,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9583,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000059.4",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9583_9585delACTinsTCG",
"hgvs_p": "p.Thr3195Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380152.8",
"protein_coding": true,
"protein_id": "NP_000050.3",
"strand": true,
"transcript": "NM_000059.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "T",
"aa_start": 3195,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11954,
"cdna_start": 9782,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9583,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380152.8",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9583_9585delACTinsTCG",
"hgvs_p": "p.Thr3195Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000059.4",
"protein_coding": true,
"protein_id": "ENSP00000369497.3",
"strand": true,
"transcript": "ENST00000380152.8",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "T",
"aa_start": 3195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11854,
"cdna_start": 9682,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9583,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544455.6",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9583_9585delACTinsTCG",
"hgvs_p": "p.Thr3195Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439902.1",
"strand": true,
"transcript": "ENST00000544455.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3295,
"aa_ref": "T",
"aa_start": 3072,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11953,
"cdna_start": 9781,
"cds_end": null,
"cds_length": 9888,
"cds_start": 9214,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530893.7",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9214_9216delACTinsTCG",
"hgvs_p": "p.Thr3072Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499438.2",
"strand": true,
"transcript": "ENST00000530893.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 11763,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000614259.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*1641_*1643delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506251.1",
"strand": true,
"transcript": "ENST00000614259.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 11763,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000614259.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*1641_*1643delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506251.1",
"strand": true,
"transcript": "ENST00000614259.2",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "T",
"aa_start": 3195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11863,
"cdna_start": 9691,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9583,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001432077.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9583_9585delACTinsTCG",
"hgvs_p": "p.Thr3195Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001419006.1",
"strand": true,
"transcript": "NM_001432077.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3418,
"aa_ref": "T",
"aa_start": 3195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11880,
"cdna_start": 9708,
"cds_end": null,
"cds_length": 10257,
"cds_start": 9583,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680887.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9583_9585delACTinsTCG",
"hgvs_p": "p.Thr3195Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505508.1",
"strand": true,
"transcript": "ENST00000680887.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3401,
"aa_ref": "T",
"aa_start": 3178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11903,
"cdna_start": 9731,
"cds_end": null,
"cds_length": 10206,
"cds_start": 9532,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406720.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9532_9534delACTinsTCG",
"hgvs_p": "p.Thr3178Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393649.1",
"strand": true,
"transcript": "NM_001406720.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3401,
"aa_ref": "T",
"aa_start": 3178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10553,
"cdna_start": 9731,
"cds_end": null,
"cds_length": 10206,
"cds_start": 9532,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700202.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9532_9534delACTinsTCG",
"hgvs_p": "p.Thr3178Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514856.2",
"strand": true,
"transcript": "ENST00000700202.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3386,
"aa_ref": "T",
"aa_start": 3163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11858,
"cdna_start": 9686,
"cds_end": null,
"cds_length": 10161,
"cds_start": 9487,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406719.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9487_9489delACTinsTCG",
"hgvs_p": "p.Thr3163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393648.1",
"strand": true,
"transcript": "NM_001406719.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3366,
"aa_ref": "T",
"aa_start": 3143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11798,
"cdna_start": 9626,
"cds_end": null,
"cds_length": 10101,
"cds_start": 9427,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713680.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9427_9429delACTinsTCG",
"hgvs_p": "p.Thr3143Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518983.1",
"strand": true,
"transcript": "ENST00000713680.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3232,
"aa_ref": "T",
"aa_start": 3195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11900,
"cdna_start": 9794,
"cds_end": null,
"cds_length": 9699,
"cds_start": 9583,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713678.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.9583_9585delACTinsTCG",
"hgvs_p": "p.Thr3195Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518981.1",
"strand": true,
"transcript": "ENST00000713678.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1774,
"aa_ref": "T",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7022,
"cdna_start": 4850,
"cds_end": null,
"cds_length": 5325,
"cds_start": 4651,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406721.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.4651_4653delACTinsTCG",
"hgvs_p": "p.Thr1551Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393650.1",
"strand": true,
"transcript": "NM_001406721.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "T",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5800,
"cdna_start": 3628,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3166,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406722.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "c.3166_3168delACTinsTCG",
"hgvs_p": "p.Thr1056Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393651.1",
"strand": true,
"transcript": "NM_001406722.1",
"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": 12077,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000470094.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*106_*108delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434898.2",
"strand": true,
"transcript": "ENST00000470094.2",
"transcript_support_level": 5
},
{
"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": 10668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000528762.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*950_*952delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433168.2",
"strand": true,
"transcript": "ENST00000528762.2",
"transcript_support_level": 4
},
{
"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": 523,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000533776.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.171_173delACTinsTCG",
"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": "ENST00000533776.1",
"transcript_support_level": 3
},
{
"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": 10917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000665585.2",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.*1145_*1147delACTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499570.2",
"strand": true,
"transcript": "ENST00000665585.2",
"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": 2532,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000700203.1",
"gene_hgnc_id": 1101,
"gene_symbol": "BRCA2",
"hgvs_c": "n.1710_1712delACTinsTCG",
"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": "ENST00000700203.1",
"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": 11958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
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