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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: 7-44624574-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44624574&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "OGDH",
"hgnc_id": 8124,
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001439007.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate",
"acmg_score": -4,
"allele_count_reference_population": 177,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "Oxoglutaricaciduria",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1023,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": null,
"cds_end": null,
"cds_length": 3072,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002541.4",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000222673.6",
"protein_coding": true,
"protein_id": "NP_002532.2",
"strand": true,
"transcript": "NM_002541.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1023,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": null,
"cds_end": null,
"cds_length": 3072,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000222673.6",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002541.4",
"protein_coding": true,
"protein_id": "ENSP00000222673.5",
"strand": true,
"transcript": "ENST00000222673.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 427,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": null,
"cds_end": null,
"cds_length": 1284,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000443864.6",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388084.2",
"strand": true,
"transcript": "ENST00000443864.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1067,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": null,
"cds_end": null,
"cds_length": 3204,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962345.1",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632404.1",
"strand": true,
"transcript": "ENST00000962345.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1063,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": null,
"cds_end": null,
"cds_length": 3192,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906382.1",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576441.1",
"strand": true,
"transcript": "ENST00000906382.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1052,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": null,
"cds_end": null,
"cds_length": 3159,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906372.1",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576431.1",
"strand": true,
"transcript": "ENST00000906372.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1052,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": null,
"cds_end": null,
"cds_length": 3159,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930777.1",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600836.1",
"strand": true,
"transcript": "ENST00000930777.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1049,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4325,
"cdna_start": null,
"cds_end": null,
"cds_length": 3150,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906377.1",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576436.1",
"strand": true,
"transcript": "ENST00000906377.1",
"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": 4238,
"cdna_start": null,
"cds_end": null,
"cds_length": 3117,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001439007.1",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425936.1",
"strand": true,
"transcript": "NM_001439007.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3309,
"cdna_start": null,
"cds_end": null,
"cds_length": 3117,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000444676.5",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000414662.1",
"strand": true,
"transcript": "ENST00000444676.5",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000906378.1",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000576437.1",
"strand": true,
"transcript": "ENST00000906378.1",
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},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000906396.1",
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"protein_coding": true,
"protein_id": "ENSP00000576455.1",
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},
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"feature": "ENST00000962344.1",
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"protein_id": "ENSP00000632403.1",
"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 24,
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"feature": "NM_001363523.2",
"gene_hgnc_id": 8124,
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"hgvs_c": "c.222+9C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001350452.1",
"strand": true,
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},
{
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"consequences": [
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],
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"feature": "ENST00000447398.6",
"gene_hgnc_id": 8124,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000388183.1",
"strand": true,
"transcript": "ENST00000447398.6",
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},
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000906369.1",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000576428.1",
"strand": true,
"transcript": "ENST00000906369.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000906387.1",
"gene_hgnc_id": 8124,
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"hgvs_c": "c.222+9C>T",
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},
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"feature": "ENST00000906399.1",
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},
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],
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"feature": "ENST00000930779.1",
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},
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"consequences": [
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],
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"feature": "ENST00000906383.1",
"gene_hgnc_id": 8124,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000576442.1",
"strand": true,
"transcript": "ENST00000906383.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
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"feature": "ENST00000906388.1",
"gene_hgnc_id": 8124,
"gene_symbol": "OGDH",
"hgvs_c": "c.222+9C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000576447.1",
"strand": true,
"transcript": "ENST00000906388.1",
"transcript_support_level": null
},
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