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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: 12-21805308-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21805308&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCC9",
"hgnc_id": 60,
"hgvs_c": "c.4516C>T",
"hgvs_p": "p.Arg1506Cys",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_005691.4",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KCNJ8-AS1",
"hgnc_id": 58193,
"hgvs_c": "n.632-21902G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "XR_007063241.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS1",
"acmg_score": -2,
"allele_count_reference_population": 126,
"alphamissense_prediction": null,
"alphamissense_score": 0.603,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"chr": "12",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1O,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8550815582275391,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8668,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020297.4",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4512+690C>T",
"hgvs_p": null,
"intron_rank": 39,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261200.9",
"protein_coding": true,
"protein_id": "NP_064693.2",
"strand": false,
"transcript": "NM_020297.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8668,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261200.9",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4512+690C>T",
"hgvs_p": null,
"intron_rank": 39,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020297.4",
"protein_coding": true,
"protein_id": "ENSP00000261200.4",
"strand": false,
"transcript": "ENST00000261200.9",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "R",
"aa_start": 1506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8844,
"cdna_start": 4879,
"cds_end": null,
"cds_length": 4650,
"cds_start": 4516,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_005691.4",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4516C>T",
"hgvs_p": "p.Arg1506Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005682.2",
"strand": false,
"transcript": "NM_005691.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "R",
"aa_start": 1506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8844,
"cdna_start": 4879,
"cds_end": null,
"cds_length": 4650,
"cds_start": 4516,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000261201.10",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4516C>T",
"hgvs_p": "p.Arg1506Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261201.4",
"strand": false,
"transcript": "ENST00000261201.10",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 3397,
"cds_end": null,
"cds_length": 3531,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000544039.5",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.3397C>T",
"hgvs_p": "p.Arg1133Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440521.1",
"strand": false,
"transcript": "ENST00000544039.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 1549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8728,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377273.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4512+690C>T",
"hgvs_p": null,
"intron_rank": 40,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364202.1",
"strand": false,
"transcript": "NM_001377273.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7612,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879186.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4512+690C>T",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549245.1",
"strand": false,
"transcript": "ENST00000879186.1",
"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": 6803,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879187.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4512+690C>T",
"hgvs_p": null,
"intron_rank": 40,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549246.1",
"strand": false,
"transcript": "ENST00000879187.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6499,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
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"feature": "ENST00000879188.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4512+690C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549247.1",
"strand": false,
"transcript": "ENST00000879188.1",
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},
{
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"consequences": [
"intron_variant"
],
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"feature": "ENST00000879190.1",
"gene_hgnc_id": 60,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549249.1",
"strand": false,
"transcript": "ENST00000879190.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000879191.1",
"gene_hgnc_id": 60,
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},
{
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],
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"feature": "ENST00000944975.1",
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},
{
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],
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"feature": "ENST00000944976.1",
"gene_hgnc_id": 60,
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"hgvs_c": "c.4509+690C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615035.1",
"strand": false,
"transcript": "ENST00000944976.1",
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},
{
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],
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"feature": "ENST00000879185.1",
"gene_hgnc_id": 60,
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},
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],
"exon_count": 39,
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"feature": "ENST00000879189.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4473+690C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549248.1",
"strand": false,
"transcript": "ENST00000879189.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000879192.1",
"gene_hgnc_id": 60,
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"hgvs_c": "c.4473+690C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549251.1",
"strand": false,
"transcript": "ENST00000879192.1",
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},
{
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"feature": "ENST00000944977.1",
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},
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],
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"feature": "ENST00000684084.1",
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},
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],
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"feature": "ENST00000879193.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549252.1",
"strand": false,
"transcript": "ENST00000879193.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
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"feature": "ENST00000944978.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.4371+690C>T",
"hgvs_p": null,
"intron_rank": 37,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615037.1",
"strand": false,
"transcript": "ENST00000944978.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 37,
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"feature": "ENST00000683676.1",
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