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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: 12-21863055-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21863055&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"PVS1_Moderate",
"BP6",
"BS1",
"BS2"
],
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"gene_symbol": "ABCC9",
"hgnc_id": 60,
"hgvs_c": "c.2238-1G>A",
"hgvs_p": null,
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 2,
"score": -7,
"transcript": "NM_005691.4",
"verdict": "Benign"
},
{
"benign_score": 5,
"criteria": [
"PP3_Strong",
"BP6",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000257022",
"hgnc_id": null,
"hgvs_c": "n.332-6527C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": -1,
"transcript": "ENST00000539874.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PVS1_Moderate,BP6,BS1,BS2",
"acmg_score": -7,
"allele_count_reference_population": 1206,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"chr": "12",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "ABCC9-related disorder,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1O,Hypertrichotic osteochondrodysplasia Cantu type,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3 B:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"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": [
"splice_acceptor_variant",
"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.2238-1G>A",
"hgvs_p": null,
"intron_rank": 19,
"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": [
"splice_acceptor_variant",
"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.2238-1G>A",
"hgvs_p": null,
"intron_rank": 19,
"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": null,
"aa_end": null,
"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": [
"splice_acceptor_variant",
"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.2238-1G>A",
"hgvs_p": null,
"intron_rank": 20,
"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": 8844,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005691.4",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2238-1G>A",
"hgvs_p": null,
"intron_rank": 19,
"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": null,
"aa_end": null,
"aa_length": 1549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8844,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261201.10",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2238-1G>A",
"hgvs_p": null,
"intron_rank": 19,
"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": 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": [
"splice_acceptor_variant",
"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.2238-1G>A",
"hgvs_p": null,
"intron_rank": 18,
"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
},
{
"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": 6803,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"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.2238-1G>A",
"hgvs_p": null,
"intron_rank": 20,
"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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"aa_end": null,
"aa_length": 1549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6499,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879188.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2238-1G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549247.1",
"strand": false,
"transcript": "ENST00000879188.1",
"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": 6352,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879190.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2238-1G>A",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549249.1",
"strand": false,
"transcript": "ENST00000879190.1",
"transcript_support_level": null
},
{
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"aa_length": 1549,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879191.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2238-1G>A",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549250.1",
"strand": false,
"transcript": "ENST00000879191.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7163,
"cdna_start": null,
"cds_end": null,
"cds_length": 4650,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
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"feature": "ENST00000944975.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2238-1G>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615034.1",
"strand": false,
"transcript": "ENST00000944975.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
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"feature": "ENST00000944976.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2238-4G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615035.1",
"strand": false,
"transcript": "ENST00000944976.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": null,
"cds_end": null,
"cds_length": 4611,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
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"feature": "ENST00000879185.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2199-1G>A",
"hgvs_p": null,
"intron_rank": 17,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549244.1",
"strand": false,
"transcript": "ENST00000879185.1",
"transcript_support_level": null
},
{
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"consequences": [
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"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
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"feature": "ENST00000879189.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2199-1G>A",
"hgvs_p": null,
"intron_rank": 18,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549248.1",
"strand": false,
"transcript": "ENST00000879189.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5476,
"cdna_start": null,
"cds_end": null,
"cds_length": 4611,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
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"feature": "ENST00000879192.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2199-1G>A",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549251.1",
"strand": false,
"transcript": "ENST00000879192.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5408,
"cdna_start": null,
"cds_end": null,
"cds_length": 4608,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
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"feature": "ENST00000944977.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2199-4G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615036.1",
"strand": false,
"transcript": "ENST00000944977.1",
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},
{
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"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
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"feature": "ENST00000684084.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000507859.1",
"strand": false,
"transcript": "ENST00000684084.1",
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},
{
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"canonical": false,
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"cds_end": null,
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"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
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"feature": "ENST00000879193.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2199-1G>A",
"hgvs_p": null,
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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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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5142,
"cdna_start": null,
"cds_end": null,
"cds_length": 4509,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944978.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2199-2000G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615037.1",
"strand": false,
"transcript": "ENST00000944978.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": null,
"cds_end": null,
"cds_length": 4443,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683676.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2238-1G>A",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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