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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: 11-49165732-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=49165732&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 49165732,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000256999.7",
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1373-960C>T",
"hgvs_p": null,
"transcript": "NM_004476.3",
"protein_id": "NP_004467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": "ENST00000256999.7",
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1373-960C>T",
"hgvs_p": null,
"transcript": "ENST00000256999.7",
"protein_id": "ENSP00000256999.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": "NM_004476.3",
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1328-960C>T",
"hgvs_p": null,
"transcript": "ENST00000340334.11",
"protein_id": "ENSP00000344131.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2697,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1373-960C>T",
"hgvs_p": null,
"transcript": "ENST00000356696.7",
"protein_id": "ENSP00000349129.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 719,
"cds_start": -4,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2403,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1328-960C>T",
"hgvs_p": null,
"transcript": "ENST00000533034.1",
"protein_id": "ENSP00000431463.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 704,
"cds_start": -4,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.975-960C>T",
"hgvs_p": null,
"transcript": "ENST00000458311.6",
"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": 1976,
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1328-960C>T",
"hgvs_p": null,
"transcript": "NM_001193471.3",
"protein_id": "NP_001180400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4207,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1373-960C>T",
"hgvs_p": null,
"transcript": "NM_001014986.3",
"protein_id": "NP_001014986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 719,
"cds_start": -4,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4017,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1328-960C>T",
"hgvs_p": null,
"transcript": "NM_001193472.3",
"protein_id": "NP_001180401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 704,
"cds_start": -4,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4114,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1202-960C>T",
"hgvs_p": null,
"transcript": "NM_001351236.2",
"protein_id": "NP_001338165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3883,
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.449-960C>T",
"hgvs_p": null,
"transcript": "NM_001193473.3",
"protein_id": "NP_001180402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": -4,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
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"cdna_length": 3736,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.456-960C>T",
"hgvs_p": null,
"transcript": "ENST00000525629.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.*774-960C>T",
"hgvs_p": null,
"transcript": "ENST00000525826.5",
"protein_id": "ENSP00000434928.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1538-960C>T",
"hgvs_p": null,
"transcript": "XM_017017432.2",
"protein_id": "XP_016872921.1",
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},
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"strand": false,
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],
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"intron_rank": 13,
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"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1538-960C>T",
"hgvs_p": null,
"transcript": "XM_017017433.3",
"protein_id": "XP_016872922.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 13,
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"gene_symbol": "FOLH1",
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"hgvs_c": "c.1328-960C>T",
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"transcript": "XM_017017434.2",
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},
{
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],
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"gene_symbol": "FOLH1",
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"hgvs_c": "c.1202-960C>T",
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"transcript": "XM_047426678.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1202-960C>T",
"hgvs_p": null,
"transcript": "XM_047426679.1",
"protein_id": "XP_047282635.1",
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
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"transcript": "XM_047426680.1",
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},
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],
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"intron_rank": 12,
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"gene_symbol": "FOLH1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1202-960C>T",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1538-960C>T",
"hgvs_p": null,
"transcript": "XM_011519958.4",
"protein_id": "XP_011518260.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": -4,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
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"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"dbsnp": "rs7113251",
"frequency_reference_population": 0.033713106,
"hom_count_reference_population": 123,
"allele_count_reference_population": 5131,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0337131,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 5131,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 123,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.246,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000256999.7",
"gene_symbol": "FOLH1",
"hgnc_id": 3788,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1373-960C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}