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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: 4-103067742-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=103067742&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 103067742,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000394785.9",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "NM_178833.7",
"protein_id": "NP_849155.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": "ENST00000394785.9",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "ENST00000394785.9",
"protein_id": "ENSP00000378265.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": "NM_178833.7",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "ENST00000362026.7",
"protein_id": "ENSP00000354574.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2300,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "NM_001370201.1",
"protein_id": "NP_001357130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4191,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "NM_001370202.1",
"protein_id": "NP_001357131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4597,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "NM_001300754.2",
"protein_id": "NP_001287683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5774,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "NM_001370203.1",
"protein_id": "NP_001357132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6180,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "NM_001370204.1",
"protein_id": "NP_001357133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4426,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "ENST00000503230.5",
"protein_id": "ENSP00000422477.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1826,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "NM_001370200.1",
"protein_id": "NP_001357129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6165,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "NM_001370199.1",
"protein_id": "NP_001357128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
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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": 12,
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"gene_symbol": "SLC9B2",
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"hgvs_c": "c.-42-150C>A",
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"transcript": "NM_001370206.1",
"protein_id": "NP_001357135.1",
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"cds_start": -4,
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"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": 11,
"intron_rank": 1,
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"gene_symbol": "SLC9B2",
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"hgvs_c": "c.-42-150C>A",
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"transcript": "NM_001370207.1",
"protein_id": "NP_001357136.1",
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},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "SLC9B2",
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"hgvs_c": "c.-42-150C>A",
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"transcript": "NM_001300756.2",
"protein_id": "NP_001287685.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "NM_001370205.1",
"protein_id": "NP_001357134.1",
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"mane_select": null,
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"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": 10,
"intron_rank": 1,
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"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "ENST00000503103.5",
"protein_id": "ENSP00000425385.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "c.-42-150C>A",
"hgvs_p": null,
"transcript": "ENST00000503818.1",
"protein_id": "ENSP00000426305.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "n.154-150C>A",
"hgvs_p": null,
"transcript": "ENST00000505838.1",
"protein_id": null,
"transcript_support_level": 3,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "n.307-150C>A",
"hgvs_p": null,
"transcript": "ENST00000508136.1",
"protein_id": "ENSP00000423496.1",
"transcript_support_level": 3,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"hgvs_c": "n.-243C>A",
"hgvs_p": null,
"transcript": "ENST00000515424.5",
"protein_id": null,
"transcript_support_level": 2,
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"feature": null
}
],
"gene_symbol": "SLC9B2",
"gene_hgnc_id": 25143,
"dbsnp": "rs7674212",
"frequency_reference_population": 0.45431387,
"hom_count_reference_population": 61818,
"allele_count_reference_population": 251112,
"gnomad_exomes_af": 0.423326,
"gnomad_genomes_af": 0.536024,
"gnomad_exomes_ac": 169647,
"gnomad_genomes_ac": 81465,
"gnomad_exomes_homalt": 37428,
"gnomad_genomes_homalt": 24390,
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.691,
"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": "ENST00000394785.9",
"gene_symbol": "SLC9B2",
"hgnc_id": 25143,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-42-150C>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
}