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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: 2-28784989-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=28784989&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PPP1CB",
"hgnc_id": 9282,
"hgvs_c": "c.592+1011C>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002709.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SPDYA",
"hgnc_id": 30613,
"hgvs_c": "n.419+1011C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000462832.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4916,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002709.3",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.592+1011C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395366.3",
"protein_coding": true,
"protein_id": "NP_002700.1",
"strand": true,
"transcript": "NM_002709.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4916,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395366.3",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.592+1011C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002709.3",
"protein_coding": true,
"protein_id": "ENSP00000378769.2",
"strand": true,
"transcript": "ENST00000395366.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296122.10",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.592+1011C>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296122.6",
"strand": true,
"transcript": "ENST00000296122.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 368,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2831,
"cdna_start": null,
"cds_end": null,
"cds_length": 1107,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000703174.1",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.715+1011C>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515220.1",
"strand": true,
"transcript": "ENST00000703174.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 368,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3769,
"cdna_start": null,
"cds_end": null,
"cds_length": 1107,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941106.1",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.715+1011C>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611165.1",
"strand": true,
"transcript": "ENST00000941106.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 336,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": null,
"cds_end": null,
"cds_length": 1011,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868413.1",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.619+1011C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538472.1",
"strand": true,
"transcript": "ENST00000868413.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 336,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": null,
"cds_end": null,
"cds_length": 1011,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941109.1",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.619+1011C>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611168.1",
"strand": true,
"transcript": "ENST00000941109.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4925,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_206876.2",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.592+1011C>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996759.1",
"strand": true,
"transcript": "NM_206876.2",
"transcript_support_level": null
},
{
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"aa_length": 327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420282.6",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.592+1011C>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398839.2",
"strand": true,
"transcript": "ENST00000420282.6",
"transcript_support_level": 4
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000441461.6",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.592+1011C>A",
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"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000414918.2",
"strand": true,
"transcript": "ENST00000441461.6",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000703173.1",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.592+1011C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000515219.1",
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"transcript": "ENST00000703173.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000941105.1",
"gene_hgnc_id": 9282,
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"protein_coding": true,
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},
{
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"consequences": [
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],
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"feature": "ENST00000941108.1",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.589+1011C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611167.1",
"strand": true,
"transcript": "ENST00000941108.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000868411.1",
"gene_hgnc_id": 9282,
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"hgvs_c": "c.580+1011C>A",
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"protein_coding": true,
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"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000703176.1",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.559+1011C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000515221.1",
"strand": true,
"transcript": "ENST00000703176.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000941113.1",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.592+1011C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611172.1",
"strand": true,
"transcript": "ENST00000941113.1",
"transcript_support_level": null
},
{
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],
"exon_count": 9,
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"feature": "ENST00000941110.1",
"gene_hgnc_id": 9282,
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"hgvs_c": "c.526+1011C>A",
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},
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],
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"feature": "ENST00000868409.1",
"gene_hgnc_id": 9282,
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},
{
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],
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"feature": "ENST00000930106.1",
"gene_hgnc_id": 9282,
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"protein_coding": true,
"protein_id": "ENSP00000600165.1",
"strand": true,
"transcript": "ENST00000930106.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 900,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000455580.6",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.508+1011C>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390715.2",
"strand": true,
"transcript": "ENST00000455580.6",
"transcript_support_level": 3
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 900,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000703172.1",
"gene_hgnc_id": 9282,
"gene_symbol": "PPP1CB",
"hgvs_c": "c.508+1011C>A",
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