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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: 13-32394765-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32394765&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 32394765,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000530893.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9333G>A",
"hgvs_p": "p.Glu3111Glu",
"transcript": "NM_000059.4",
"protein_id": "NP_000050.3",
"transcript_support_level": null,
"aa_start": 3111,
"aa_end": null,
"aa_length": 3418,
"cds_start": 9333,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 9532,
"cdna_end": null,
"cdna_length": 11954,
"mane_select": "ENST00000380152.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9333G>A",
"hgvs_p": "p.Glu3111Glu",
"transcript": "ENST00000380152.8",
"protein_id": "ENSP00000369497.3",
"transcript_support_level": 5,
"aa_start": 3111,
"aa_end": null,
"aa_length": 3418,
"cds_start": 9333,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 9532,
"cdna_end": null,
"cdna_length": 11954,
"mane_select": "NM_000059.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9333G>A",
"hgvs_p": "p.Glu3111Glu",
"transcript": "ENST00000544455.6",
"protein_id": "ENSP00000439902.1",
"transcript_support_level": 1,
"aa_start": 3111,
"aa_end": null,
"aa_length": 3418,
"cds_start": 9333,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 9432,
"cdna_end": null,
"cdna_length": 11854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.8964G>A",
"hgvs_p": "p.Glu2988Glu",
"transcript": "ENST00000530893.7",
"protein_id": "ENSP00000499438.2",
"transcript_support_level": 1,
"aa_start": 2988,
"aa_end": null,
"aa_length": 3295,
"cds_start": 8964,
"cds_end": null,
"cds_length": 9888,
"cdna_start": 9531,
"cdna_end": null,
"cdna_length": 11953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*1391G>A",
"hgvs_p": null,
"transcript": "ENST00000614259.2",
"protein_id": "ENSP00000506251.1",
"transcript_support_level": 2,
"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": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*1391G>A",
"hgvs_p": null,
"transcript": "ENST00000614259.2",
"protein_id": "ENSP00000506251.1",
"transcript_support_level": 2,
"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": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9333G>A",
"hgvs_p": "p.Glu3111Glu",
"transcript": "NM_001432077.1",
"protein_id": "NP_001419006.1",
"transcript_support_level": null,
"aa_start": 3111,
"aa_end": null,
"aa_length": 3418,
"cds_start": 9333,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 9441,
"cdna_end": null,
"cdna_length": 11863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9333G>A",
"hgvs_p": "p.Glu3111Glu",
"transcript": "ENST00000680887.1",
"protein_id": "ENSP00000505508.1",
"transcript_support_level": null,
"aa_start": 3111,
"aa_end": null,
"aa_length": 3418,
"cds_start": 9333,
"cds_end": null,
"cds_length": 10257,
"cdna_start": 9458,
"cdna_end": null,
"cdna_length": 11880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9282G>A",
"hgvs_p": "p.Glu3094Glu",
"transcript": "NM_001406720.1",
"protein_id": "NP_001393649.1",
"transcript_support_level": null,
"aa_start": 3094,
"aa_end": null,
"aa_length": 3401,
"cds_start": 9282,
"cds_end": null,
"cds_length": 10206,
"cdna_start": 9481,
"cdna_end": null,
"cdna_length": 11903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9282G>A",
"hgvs_p": "p.Glu3094Glu",
"transcript": "ENST00000700202.2",
"protein_id": "ENSP00000514856.2",
"transcript_support_level": null,
"aa_start": 3094,
"aa_end": null,
"aa_length": 3401,
"cds_start": 9282,
"cds_end": null,
"cds_length": 10206,
"cdna_start": 9481,
"cdna_end": null,
"cdna_length": 10553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9237G>A",
"hgvs_p": "p.Glu3079Glu",
"transcript": "NM_001406719.1",
"protein_id": "NP_001393648.1",
"transcript_support_level": null,
"aa_start": 3079,
"aa_end": null,
"aa_length": 3386,
"cds_start": 9237,
"cds_end": null,
"cds_length": 10161,
"cdna_start": 9436,
"cdna_end": null,
"cdna_length": 11858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9177G>A",
"hgvs_p": "p.Glu3059Glu",
"transcript": "ENST00000713680.1",
"protein_id": "ENSP00000518983.1",
"transcript_support_level": null,
"aa_start": 3059,
"aa_end": null,
"aa_length": 3366,
"cds_start": 9177,
"cds_end": null,
"cds_length": 10101,
"cdna_start": 9376,
"cdna_end": null,
"cdna_length": 11798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.9333G>A",
"hgvs_p": "p.Glu3111Glu",
"transcript": "ENST00000713678.1",
"protein_id": "ENSP00000518981.1",
"transcript_support_level": null,
"aa_start": 3111,
"aa_end": null,
"aa_length": 3232,
"cds_start": 9333,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 9544,
"cdna_end": null,
"cdna_length": 11900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.4401G>A",
"hgvs_p": "p.Glu1467Glu",
"transcript": "NM_001406721.1",
"protein_id": "NP_001393650.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1774,
"cds_start": 4401,
"cds_end": null,
"cds_length": 5325,
"cdna_start": 4600,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.2916G>A",
"hgvs_p": "p.Glu972Glu",
"transcript": "NM_001406722.1",
"protein_id": "NP_001393651.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.9333G>A",
"hgvs_p": null,
"transcript": "ENST00000470094.2",
"protein_id": "ENSP00000434898.2",
"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": 12077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*700G>A",
"hgvs_p": null,
"transcript": "ENST00000528762.2",
"protein_id": "ENSP00000433168.2",
"transcript_support_level": 4,
"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": 10668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*895G>A",
"hgvs_p": null,
"transcript": "ENST00000665585.2",
"protein_id": "ENSP00000499570.2",
"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": 10917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*178G>A",
"hgvs_p": null,
"transcript": "ENST00000666593.2",
"protein_id": "ENSP00000499256.2",
"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": 9839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.1460G>A",
"hgvs_p": null,
"transcript": "ENST00000700203.1",
"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": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*8972G>A",
"hgvs_p": null,
"transcript": "ENST00000713677.1",
"protein_id": "ENSP00000518980.1",
"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": 11958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*872G>A",
"hgvs_p": null,
"transcript": "ENST00000713679.1",
"protein_id": "ENSP00000518982.1",
"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": 11428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.9596G>A",
"hgvs_p": null,
"transcript": "NR_176251.1",
"protein_id": null,
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}
],
"gene_symbol": "BRCA2",
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"dbsnp": "rs876658469",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.066,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000530893.7",
"gene_symbol": "BRCA2",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.8964G>A",
"hgvs_p": "p.Glu2988Glu"
}
],
"clinvar_disease": " 2, familial, susceptibility to,Breast-ovarian cancer,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|not provided|Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary breast ovarian cancer syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}