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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: 11-49152589-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=49152589&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 49152589,
"ref": "G",
"alt": "T",
"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": 17,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1970+1257C>A",
"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": 17,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1970+1257C>A",
"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": 18,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1925+1257C>A",
"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": 17,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1970+1257C>A",
"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": 18,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1925+1257C>A",
"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": 12,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.1572+1257C>A",
"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": 18,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1925+1257C>A",
"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,
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"cds_length": 2208,
"cdna_start": null,
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"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": 17,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1970+1257C>A",
"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": 18,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1925+1257C>A",
"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,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1799+1257C>A",
"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,
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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,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1046+1257C>A",
"hgvs_p": null,
"transcript": "NM_001193473.3",
"protein_id": "NP_001180402.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 442,
"cds_start": -4,
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"cds_length": 1329,
"cdna_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 15,
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"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.*1371+1257C>A",
"hgvs_p": null,
"transcript": "ENST00000525826.5",
"protein_id": "ENSP00000434928.1",
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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": 18,
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"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.2135+1257C>A",
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"transcript": "XM_017017432.2",
"protein_id": "XP_016872921.1",
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},
{
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],
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"intron_rank": 18,
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"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.2135+1257C>A",
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"transcript": "XM_017017433.3",
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},
{
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"consequences": [
"intron_variant"
],
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"intron_rank": 18,
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"gene_symbol": "FOLH1",
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"hgvs_c": "c.1925+1257C>A",
"hgvs_p": null,
"transcript": "XM_017017434.2",
"protein_id": "XP_016872923.1",
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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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1799+1257C>A",
"hgvs_p": null,
"transcript": "XM_047426678.1",
"protein_id": "XP_047282634.1",
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},
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],
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"gene_symbol": "FOLH1",
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"hgvs_c": "c.1799+1257C>A",
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"transcript": "XM_047426679.1",
"protein_id": "XP_047282635.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 17,
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"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1799+1257C>A",
"hgvs_p": null,
"transcript": "XM_047426680.1",
"protein_id": "XP_047282636.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.1799+1257C>A",
"hgvs_p": null,
"transcript": "XM_047426681.1",
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},
{
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"consequences": [
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],
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
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"hgvs_c": "c.1799+1257C>A",
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"transcript": "XM_047426682.1",
"protein_id": "XP_047282638.1",
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}
],
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"dbsnp": "rs383028",
"frequency_reference_population": 0.89114463,
"hom_count_reference_population": 60468,
"allele_count_reference_population": 135634,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.891145,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 135634,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 60468,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0199999809265137,
"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": -1.02,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.572,
"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,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000256999.7",
"gene_symbol": "FOLH1",
"hgnc_id": 3788,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1970+1257C>A",
"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
}