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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: 2-187533353-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=187533353&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 187533353,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000233156.9",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-3+20847C>G",
"hgvs_p": null,
"transcript": "NM_006287.6",
"protein_id": "NP_006278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": "ENST00000233156.9",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-3+20847C>G",
"hgvs_p": null,
"transcript": "ENST00000233156.9",
"protein_id": "ENSP00000233156.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": "NM_006287.6",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-3+20847C>G",
"hgvs_p": null,
"transcript": "ENST00000339091.8",
"protein_id": "ENSP00000342306.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1088,
"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": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-33-19707C>G",
"hgvs_p": null,
"transcript": "ENST00000409676.5",
"protein_id": "ENSP00000386344.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1119,
"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": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-155-3868C>G",
"hgvs_p": null,
"transcript": "NM_001329239.2",
"protein_id": "NP_001316168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4012,
"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": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-33-19707C>G",
"hgvs_p": null,
"transcript": "NM_001329240.2",
"protein_id": "NP_001316169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3890,
"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": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-124-3868C>G",
"hgvs_p": null,
"transcript": "NM_001329241.2",
"protein_id": "NP_001316170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3981,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-3+20847C>G",
"hgvs_p": null,
"transcript": "NM_001032281.4",
"protein_id": "NP_001027452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1092,
"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": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-33-19707C>G",
"hgvs_p": null,
"transcript": "NM_001318941.3",
"protein_id": "NP_001305870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1123,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-124-3868C>G",
"hgvs_p": null,
"transcript": "ENST00000421427.5",
"protein_id": "ENSP00000408170.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-74-12740C>G",
"hgvs_p": null,
"transcript": "ENST00000437725.5",
"protein_id": "ENSP00000388159.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 4,
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"gene_symbol": "TFPI",
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"hgvs_c": "c.-124-3868C>G",
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"transcript": "ENST00000453013.5",
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},
{
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"strand": false,
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],
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"gene_symbol": "TFPI",
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"hgvs_c": "c.-33-19707C>G",
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"transcript": "ENST00000417013.5",
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},
{
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"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "TFPI",
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"hgvs_c": "c.-106+11151C>G",
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"transcript": "ENST00000420747.1",
"protein_id": "ENSP00000402954.1",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "CALCRL-AS1",
"gene_hgnc_id": 55863,
"hgvs_c": "n.290-13376G>C",
"hgvs_p": null,
"transcript": "ENST00000412276.6",
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CALCRL-AS1",
"gene_hgnc_id": 55863,
"hgvs_c": "n.291-13376G>C",
"hgvs_p": null,
"transcript": "NR_187179.1",
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},
{
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],
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"gene_symbol": "TFPI",
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"hgvs_c": "c.-232-3868C>G",
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"transcript": "XM_047445617.1",
"protein_id": "XP_047301573.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 2,
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"gene_symbol": "TFPI",
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"hgvs_c": "c.-155-3868C>G",
"hgvs_p": null,
"transcript": "XM_047445618.1",
"protein_id": "XP_047301574.1",
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},
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],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "TFPI",
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"hgvs_c": "c.-232-3868C>G",
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"transcript": "XM_047445619.1",
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},
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],
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "TFPI",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.-232-3868C>G",
"hgvs_p": null,
"transcript": "XM_047445623.1",
"protein_id": "XP_047301579.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 251,
"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
}
],
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"dbsnp": "rs7573488",
"frequency_reference_population": 0.23973747,
"hom_count_reference_population": 4494,
"allele_count_reference_population": 36454,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.239737,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 36454,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 4494,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.365,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000233156.9",
"gene_symbol": "TFPI",
"hgnc_id": 11760,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-3+20847C>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_187179.1",
"gene_symbol": "CALCRL-AS1",
"hgnc_id": 55863,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.291-13376G>C",
"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
}