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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: 1-6579787-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6579787&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6579787,
"ref": "G",
"alt": "T",
"effect": "upstream_gene_variant",
"transcript": "ENST00000377674.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-419G>T",
"hgvs_p": null,
"transcript": "NM_005341.4",
"protein_id": "NP_005332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": "ENST00000377674.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-419G>T",
"hgvs_p": null,
"transcript": "ENST00000377674.9",
"protein_id": "ENSP00000366902.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": "NM_005341.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.*203G>T",
"hgvs_p": null,
"transcript": "NM_138697.4",
"protein_id": "NP_619642.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": "ENST00000333172.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.*203G>T",
"hgvs_p": null,
"transcript": "ENST00000333172.11",
"protein_id": "ENSP00000331867.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": "NM_138697.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-332G>T",
"hgvs_p": null,
"transcript": "NM_001278647.2",
"protein_id": "NP_001265576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-353G>T",
"hgvs_p": null,
"transcript": "NM_001278648.2",
"protein_id": "NP_001265577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-332G>T",
"hgvs_p": null,
"transcript": "ENST00000319084.9",
"protein_id": "ENSP00000313416.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": -4,
"cds_end": null,
"cds_length": 932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-353G>T",
"hgvs_p": null,
"transcript": "ENST00000435905.5",
"protein_id": "ENSP00000416054.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": -4,
"cds_end": null,
"cds_length": 878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-823G>T",
"hgvs_p": null,
"transcript": "XM_047418864.1",
"protein_id": "XP_047274820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-419G>T",
"hgvs_p": null,
"transcript": "XM_047418865.1",
"protein_id": "XP_047274821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-1104G>T",
"hgvs_p": null,
"transcript": "XM_047418867.1",
"protein_id": "XP_047274823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ZBTB48",
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"hgvs_c": "c.-1508G>T",
"hgvs_p": null,
"transcript": "XM_047418868.1",
"protein_id": "XP_047274824.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-1038G>T",
"hgvs_p": null,
"transcript": "XM_047418869.1",
"protein_id": "XP_047274825.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ZBTB48",
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"hgvs_c": "c.-1017G>T",
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"transcript": "XM_047418870.1",
"protein_id": "XP_047274826.1",
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "ZBTB48",
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"hgvs_c": "c.-419G>T",
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"transcript": "XM_017001111.3",
"protein_id": "XP_016856600.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ZBTB48",
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"hgvs_c": "c.-419G>T",
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"transcript": "XM_047418875.1",
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},
{
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],
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"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-444G>T",
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"transcript": "XM_047418878.1",
"protein_id": "XP_047274834.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ZBTB48",
"gene_hgnc_id": 4930,
"hgvs_c": "c.-378G>T",
"hgvs_p": null,
"transcript": "XM_047418880.1",
"protein_id": "XP_047274836.1",
"transcript_support_level": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ZBTB48",
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"hgvs_c": "c.-357G>T",
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"transcript": "XM_047418882.1",
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},
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],
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"gene_symbol": "TAS1R1",
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"transcript": "NM_177540.3",
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},
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],
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"gene_symbol": "TAS1R1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TAS1R1",
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"hgvs_c": "c.*203G>T",
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"transcript": "XM_011542203.2",
"protein_id": "XP_011540505.1",
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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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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.*349G>T",
"hgvs_p": null,
"transcript": "XM_011542206.3",
"protein_id": "XP_011540508.2",
"transcript_support_level": null,
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}
],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.372,
"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": "ENST00000377674.9",
"gene_symbol": "ZBTB48",
"hgnc_id": 4930,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-419G>T",
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},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000333172.11",
"gene_symbol": "TAS1R1",
"hgnc_id": 14448,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*203G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}