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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: 5-81423306-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=81423306&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SSBP2",
"hgnc_id": 15831,
"hgvs_c": "c.1117-2773G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001394350.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 31888,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 369,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8865,
"cdna_start": null,
"cds_end": null,
"cds_length": 1110,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256732.3",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1081-2773G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000615665.5",
"protein_coding": true,
"protein_id": "NP_001243661.1",
"strand": false,
"transcript": "NM_001256732.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 369,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8865,
"cdna_start": null,
"cds_end": null,
"cds_length": 1110,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615665.5",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1081-2773G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256732.3",
"protein_coding": true,
"protein_id": "ENSP00000483921.1",
"strand": false,
"transcript": "ENST00000615665.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 361,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8841,
"cdna_start": null,
"cds_end": null,
"cds_length": 1086,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000320672.9",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1057-2773G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322977.4",
"strand": false,
"transcript": "ENST00000320672.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 331,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": null,
"cds_end": null,
"cds_length": 996,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000514493.5",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.967-2773G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426183.1",
"strand": false,
"transcript": "ENST00000514493.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 381,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8901,
"cdna_start": null,
"cds_end": null,
"cds_length": 1146,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394350.1",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1117-2773G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381279.1",
"strand": false,
"transcript": "NM_001394350.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 369,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": null,
"cds_end": null,
"cds_length": 1110,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400340.1",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1081-2773G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387269.1",
"strand": false,
"transcript": "NM_001400340.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 365,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8830,
"cdna_start": null,
"cds_end": null,
"cds_length": 1098,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400341.1",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1057-2784G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387270.1",
"strand": false,
"transcript": "NM_001400341.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 361,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": null,
"cds_end": null,
"cds_length": 1086,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400342.1",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1057-2773G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387271.1",
"strand": false,
"transcript": "NM_001400342.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8841,
"cdna_start": null,
"cds_end": null,
"cds_length": 1086,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012446.5",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1057-2773G>A",
"hgvs_p": null,
"intron_rank": 16,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036578.2",
"strand": false,
"transcript": "NM_012446.5",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400366.1",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1054-2773G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001387295.1",
"strand": false,
"transcript": "NM_001400366.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000855148.1",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000525207.1",
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"transcript": "ENST00000855148.1",
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},
{
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"protein_coding": true,
"protein_id": "ENSP00000525211.1",
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},
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],
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},
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"consequences": [
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],
"exon_count": 16,
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"feature": "NM_001400343.1",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1045-2773G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001387272.1",
"strand": false,
"transcript": "NM_001400343.1",
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},
{
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],
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"transcript": "ENST00000965586.1",
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},
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"consequences": [
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],
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"feature": "NM_001400344.1",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1055-2773G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001387273.1",
"strand": false,
"transcript": "NM_001400344.1",
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},
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000965583.1",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.1027-2773G>A",
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},
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],
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"feature": "NM_001400345.1",
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},
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],
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"feature": "NM_001400369.1",
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},
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"consequences": [
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],
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"feature": "ENST00000965581.1",
"gene_hgnc_id": 15831,
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"hgvs_c": "c.1021-2773G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635640.1",
"strand": false,
"transcript": "ENST00000965581.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
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"feature": "NM_001256733.3",
"gene_hgnc_id": 15831,
"gene_symbol": "SSBP2",
"hgvs_c": "c.997-2773G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001243662.1",
"strand": false,
"transcript": "NM_001256733.3",
"transcript_support_level": null
},
{
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