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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: 10-87074533-CTA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87074533&ref=CTA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87074533,
"ref": "CTA",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_005271.5",
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "NM_005271.5",
"protein_id": "NP_005262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000277865.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005271.5"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "ENST00000277865.5",
"protein_id": "ENSP00000277865.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005271.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277865.5"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "ENST00000915201.1",
"protein_id": "ENSP00000585260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915201.1"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "ENST00000898383.1",
"protein_id": "ENSP00000568442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898383.1"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "ENST00000944406.1",
"protein_id": "ENSP00000614465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944406.1"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "ENST00000898388.1",
"protein_id": "ENSP00000568447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898388.1"
},
{
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "ENST00000898382.1",
"protein_id": "ENSP00000568441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898382.1"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "ENST00000684338.1",
"protein_id": "ENSP00000507457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684338.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.565+16_565+17delTA",
"hgvs_p": null,
"transcript": "ENST00000898387.1",
"protein_id": "ENSP00000568446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898387.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.526+2041_526+2042delTA",
"hgvs_p": null,
"transcript": "ENST00000915200.1",
"protein_id": "ENSP00000585259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915200.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
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"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "ENST00000898385.1",
"protein_id": "ENSP00000568444.1",
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"cds_start": null,
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"cdna_start": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "GLUD1",
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"hgvs_c": "c.646+16_646+17delTA",
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"transcript": "ENST00000915199.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
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"gene_symbol": "GLUD1",
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"hgvs_c": "c.646+16_646+17delTA",
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},
{
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"strand": false,
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],
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"gene_symbol": "GLUD1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "GLUD1",
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"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null,
"transcript": "ENST00000898390.1",
"protein_id": "ENSP00000568449.1",
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"feature": "ENST00000898390.1"
},
{
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],
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"intron_rank": 4,
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"gene_symbol": "GLUD1",
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},
{
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"strand": false,
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],
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"intron_rank": 4,
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"gene_symbol": "GLUD1",
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"hgvs_c": "c.646+16_646+17delTA",
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"transcript": "ENST00000944407.1",
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"feature": "ENST00000944407.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.247+16_247+17delTA",
"hgvs_p": null,
"transcript": "NM_001318900.1",
"protein_id": "NP_001305829.1",
"transcript_support_level": null,
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},
{
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],
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"gene_symbol": "GLUD1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "GLUD1",
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},
{
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"intron_variant"
],
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"gene_symbol": "GLUD1",
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"hgvs_c": "c.145+16_145+17delTA",
"hgvs_p": null,
"transcript": "NM_001318902.1",
"protein_id": "NP_001305831.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001318902.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.145+16_145+17delTA",
"hgvs_p": null,
"transcript": "NM_001318904.2",
"protein_id": "NP_001305833.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318904.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.37,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005271.5",
"gene_symbol": "GLUD1",
"hgnc_id": 4335,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.646+16_646+17delTA",
"hgvs_p": null
}
],
"clinvar_disease": "Hyperinsulinism-hyperammonemia syndrome,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Hyperinsulinism-hyperammonemia syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}