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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: 19-54630503-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54630503&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54630503,
"ref": "A",
"alt": "T",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000324602.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.-179A>T",
"hgvs_p": null,
"transcript": "NM_001081637.3",
"protein_id": "NP_001075106.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": -4,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "ENST00000324602.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.-179A>T",
"hgvs_p": null,
"transcript": "ENST00000324602.12",
"protein_id": "ENSP00000315997.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": -4,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "NM_001081637.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.-179A>T",
"hgvs_p": null,
"transcript": "ENST00000396327.7",
"protein_id": "ENSP00000379618.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.-165-14A>T",
"hgvs_p": null,
"transcript": "ENST00000396331.5",
"protein_id": "ENSP00000379622.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": -4,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.-179A>T",
"hgvs_p": null,
"transcript": "NM_001081638.4",
"protein_id": "NP_001075107.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.-179A>T",
"hgvs_p": null,
"transcript": "NM_001081639.4",
"protein_id": "NP_001075108.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.-165-14A>T",
"hgvs_p": null,
"transcript": "NM_001388358.1",
"protein_id": "NP_001375287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": -4,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
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"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.-165-14A>T",
"hgvs_p": null,
"transcript": "NM_001388355.1",
"protein_id": "NP_001375284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.-165-14A>T",
"hgvs_p": null,
"transcript": "NM_001388356.1",
"protein_id": "NP_001375285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "LILRB1",
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"hgvs_c": "c.-165-14A>T",
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"transcript": "NM_001388357.1",
"protein_id": "NP_001375286.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "LILRB1",
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"hgvs_c": "c.-165-14A>T",
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"transcript": "NM_006669.7",
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},
{
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"consequences": [
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],
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},
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],
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"gene_symbol": "LILRB1",
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],
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],
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},
{
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],
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"gene_symbol": "LILRB1",
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},
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],
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],
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],
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},
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],
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"intron_rank": 2,
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"gene_symbol": "LILRB1",
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"hgvs_c": "c.-130-14A>T",
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"transcript": "XM_047438089.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "LILRB1",
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"hgvs_c": "c.-179A>T",
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"transcript": "ENST00000396332.8",
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],
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"computational_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4_Strong"
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"verdict": "Likely_benign",
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"effects": [
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"inheritance_mode": "AR",
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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
}