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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: 10-73911598-GTG-CTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73911598&ref=GTG&alt=CTT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PLAU",
"hgnc_id": 9052,
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002658.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "C10orf55",
"hgnc_id": 31008,
"hgvs_c": "n.882_884delCACinsAAG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000409178.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 161,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002658.6",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372764.4",
"protein_coding": true,
"protein_id": "NP_002649.2",
"strand": true,
"transcript": "NM_002658.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 161,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372764.4",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002658.6",
"protein_coding": true,
"protein_id": "ENSP00000361850.3",
"strand": true,
"transcript": "ENST00000372764.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409178.5",
"gene_hgnc_id": 31008,
"gene_symbol": "C10orf55",
"hgvs_c": "n.882_884delCACinsAAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000409178.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441154.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428083.1",
"strand": true,
"transcript": "NM_001441154.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 290,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441155.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428084.1",
"strand": true,
"transcript": "NM_001441155.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 214,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441156.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428085.1",
"strand": true,
"transcript": "NM_001441156.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441157.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428086.1",
"strand": true,
"transcript": "NM_001441157.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 298,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894723.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564782.1",
"strand": true,
"transcript": "ENST00000894723.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 504,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935791.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605850.1",
"strand": true,
"transcript": "ENST00000935791.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 295,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935792.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605851.1",
"strand": true,
"transcript": "ENST00000935792.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 161,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944838.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614897.1",
"strand": true,
"transcript": "ENST00000944838.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 395,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 161,
"cds_end": null,
"cds_length": 1188,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935793.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605852.1",
"strand": true,
"transcript": "ENST00000935793.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 161,
"cds_end": null,
"cds_length": 1128,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441160.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428089.1",
"strand": true,
"transcript": "NM_001441160.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 105,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 468,
"cdna_start": 192,
"cds_end": null,
"cds_length": 319,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000481390.5",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474318.1",
"strand": true,
"transcript": "ENST00000481390.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "V",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1296,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425353.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.43_45delGTGinsCTT",
"hgvs_p": "p.Val15Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281309.1",
"strand": true,
"transcript": "XM_047425353.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 414,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": null,
"cds_end": null,
"cds_length": 1245,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001145031.3",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.-294_-292delGTGinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138503.2",
"strand": true,
"transcript": "NM_001145031.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 414,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": null,
"cds_end": null,
"cds_length": 1245,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000446342.5",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.-294_-292delGTGinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388474.1",
"strand": true,
"transcript": "ENST00000446342.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001319191.2",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.-188_-186delGTGinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306120.2",
"strand": true,
"transcript": "NM_001319191.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001441158.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.-529_-527delGTGinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428087.1",
"strand": true,
"transcript": "NM_001441158.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001441159.1",
"gene_hgnc_id": 9052,
"gene_symbol": "PLAU",
"hgvs_c": "c.-211_-209delGTGinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428088.1",
"strand": true,
"transcript": "NM_001441159.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 750,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
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