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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: 19-42423369-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42423369&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42423369,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000244289.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.883+2898A>G",
"hgvs_p": null,
"transcript": "NM_005357.4",
"protein_id": "NP_005348.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": -4,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": "ENST00000244289.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.883+2898A>G",
"hgvs_p": null,
"transcript": "ENST00000244289.9",
"protein_id": "ENSP00000244289.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": -4,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": "NM_005357.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.118+50A>G",
"hgvs_p": null,
"transcript": "ENST00000599783.5",
"protein_id": "ENSP00000469990.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.105+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000594624.8",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.883+2898A>G",
"hgvs_p": null,
"transcript": "ENST00000599918.2",
"protein_id": "ENSP00000472218.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.883+2898A>G",
"hgvs_p": null,
"transcript": "ENST00000597620.6",
"protein_id": "ENSP00000469545.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1000,
"cds_start": -4,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.118+50A>G",
"hgvs_p": null,
"transcript": "NM_001416100.1",
"protein_id": "NP_001403029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 826,
"cds_start": -4,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.118+50A>G",
"hgvs_p": null,
"transcript": "NM_001416101.1",
"protein_id": "NP_001403030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": -4,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.118+50A>G",
"hgvs_p": null,
"transcript": "NM_001416105.1",
"protein_id": "NP_001403034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.60+50A>G",
"hgvs_p": null,
"transcript": "NM_001416107.1",
"protein_id": "NP_001403036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.-917+50A>G",
"hgvs_p": null,
"transcript": "NM_001416108.1",
"protein_id": "NP_001403037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
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"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.77+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000597203.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.121+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000685574.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.106+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000689053.2",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "LIPE-AS1",
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"hgvs_c": "n.110+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000701294.2",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.118+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000702399.2",
"protein_id": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "LIPE-AS1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.63+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000750099.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.61+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000750100.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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},
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],
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"gene_symbol": "LIPE-AS1",
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "LIPE-AS1",
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"hgvs_c": "n.66+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000750103.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.54+26145T>C",
"hgvs_p": null,
"transcript": "ENST00000750104.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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}
],
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"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.719,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000244289.9",
"gene_symbol": "LIPE",
"hgnc_id": 6621,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000594624.8",
"gene_symbol": "LIPE-AS1",
"hgnc_id": 48589,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.105+26145T>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}