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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: 8-11757212-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11757212&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GATA4",
"hgnc_id": 4173,
"hgvs_c": "c.1149+129C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001308093.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 4958,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "8",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Congenital heart disease,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 443,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001308093.3",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1149+129C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000532059.6",
"protein_coding": true,
"protein_id": "NP_001295022.1",
"strand": true,
"transcript": "NM_001308093.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 443,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000532059.6",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1149+129C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001308093.3",
"protein_coding": true,
"protein_id": "ENSP00000435712.1",
"strand": true,
"transcript": "ENST00000532059.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886854.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1167+129C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556913.1",
"strand": true,
"transcript": "ENST00000886854.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 443,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886846.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1149+129C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556905.1",
"strand": true,
"transcript": "ENST00000886846.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 443,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3809,
"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886848.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1149+129C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556907.1",
"strand": true,
"transcript": "ENST00000886848.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 443,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886851.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1149+129C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556910.1",
"strand": true,
"transcript": "ENST00000886851.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 443,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886852.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1149+129C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556911.1",
"strand": true,
"transcript": "ENST00000886852.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 443,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000886853.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1149+129C>T",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556912.1",
"strand": true,
"transcript": "ENST00000886853.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000952124.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1149+129C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622183.1",
"strand": true,
"transcript": "ENST00000952124.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000952125.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1149+129C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000622184.1",
"strand": true,
"transcript": "ENST00000952125.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000952126.1",
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"gene_symbol": "GATA4",
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"mane_plus": null,
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"protein_id": "ENSP00000622185.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000952127.1",
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},
{
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],
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"feature": "NM_002052.5",
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"mane_plus": null,
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"protein_id": "NP_002043.2",
"strand": true,
"transcript": "NM_002052.5",
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},
{
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000335135.8",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1146+129C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000334458.4",
"strand": true,
"transcript": "ENST00000335135.8",
"transcript_support_level": 5
},
{
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],
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"feature": "ENST00000622443.3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000482268.2",
"strand": true,
"transcript": "ENST00000622443.3",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000886845.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1146+129C>T",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556904.1",
"strand": true,
"transcript": "ENST00000886845.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000886847.1",
"gene_hgnc_id": 4173,
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"mane_plus": null,
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},
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],
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"feature": "ENST00000886849.1",
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},
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],
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"feature": "ENST00000886850.1",
"gene_hgnc_id": 4173,
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"protein_id": "ENSP00000556909.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
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"exon_rank": null,
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"feature": "ENST00000886855.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1146+129C>T",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556914.1",
"strand": true,
"transcript": "ENST00000886855.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952123.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1146+129C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622182.1",
"strand": true,
"transcript": "ENST00000952123.1",
"transcript_support_level": null
},
{
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