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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: 7-150373541-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150373541&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150373541,
"ref": "A",
"alt": "G",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000489432.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001099695.2",
"protein_id": "NP_001093165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": "ENST00000489432.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "ENST00000489432.7",
"protein_id": "ENSP00000417291.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": "NM_001099695.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "ENST00000444957.3",
"protein_id": "ENSP00000407714.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388037.1",
"protein_id": "NP_001374966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": -4,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001362745.2",
"protein_id": "NP_001349674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388038.1",
"protein_id": "NP_001374967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388039.1",
"protein_id": "NP_001374968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388040.1",
"protein_id": "NP_001374969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388041.1",
"protein_id": "NP_001374970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388042.1",
"protein_id": "NP_001374971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
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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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388043.1",
"protein_id": "NP_001374972.1",
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "REPIN1",
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"hgvs_c": "c.*596A>G",
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"transcript": "NM_001388044.1",
"protein_id": "NP_001374973.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
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"transcript": "NM_001388045.1",
"protein_id": "NP_001374974.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
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"transcript": "NM_001099696.3",
"protein_id": "NP_001093166.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
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"transcript": "NM_001362746.2",
"protein_id": "NP_001349675.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
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"transcript": "NM_001362747.2",
"protein_id": "NP_001349676.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "REPIN1",
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"hgvs_c": "c.*596A>G",
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"transcript": "NM_001388046.1",
"protein_id": "NP_001374975.1",
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388047.1",
"protein_id": "NP_001374976.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
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"transcript": "NM_001388048.1",
"protein_id": "NP_001374977.1",
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},
{
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],
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"gene_symbol": "REPIN1",
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"transcript": "NM_001388049.1",
"protein_id": "NP_001374978.1",
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},
{
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],
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"hgvs_c": "c.*596A>G",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388051.1",
"protein_id": "NP_001374980.1",
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"aa_start": null,
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"cds_start": -4,
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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": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPIN1",
"gene_hgnc_id": 17922,
"hgvs_c": "c.*596A>G",
"hgvs_p": null,
"transcript": "NM_001388052.1",
"protein_id": "NP_001374981.1",
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"verdict": "Benign",
"transcript": "ENST00000489432.7",
"gene_symbol": "REPIN1",
"hgnc_id": 17922,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*596A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000478789.5",
"gene_symbol": "ZNF775",
"hgnc_id": 28501,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-50+4600A>G",
"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
}