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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: 5-50667120-CGA-TTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=50667120&ref=CGA&alt=TTG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PARP8",
"hgnc_id": 26124,
"hgvs_c": "c.148_150delCGAinsTTG",
"hgvs_p": "p.Arg50Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001427055.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000289056",
"hgnc_id": null,
"hgvs_c": "n.835_837delTCGinsCAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000691656.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"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": 854,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7475,
"cdna_start": 484,
"cds_end": null,
"cds_length": 2565,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024615.4",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281631.10",
"protein_coding": true,
"protein_id": "NP_078891.2",
"strand": true,
"transcript": "NM_024615.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7475,
"cdna_start": 484,
"cds_end": null,
"cds_length": 2565,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000281631.10",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024615.4",
"protein_coding": true,
"protein_id": "ENSP00000281631.4",
"strand": true,
"transcript": "ENST00000281631.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 207,
"cds_end": null,
"cds_length": 2565,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505697.6",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422217.2",
"strand": true,
"transcript": "ENST00000505697.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 812,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": 142,
"cds_end": null,
"cds_length": 2439,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000514067.6",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424814.2",
"strand": true,
"transcript": "ENST00000514067.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7388,
"cdna_start": 397,
"cds_end": null,
"cds_length": 2688,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001427055.1",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.148_150delCGAinsTTG",
"hgvs_p": "p.Arg50Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001413984.1",
"strand": true,
"transcript": "NM_001427055.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7166,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2565,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001178055.2",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171526.1",
"strand": true,
"transcript": "NM_001178055.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4015,
"cdna_start": 135,
"cds_end": null,
"cds_length": 2565,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898727.1",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568786.1",
"strand": true,
"transcript": "ENST00000898727.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 812,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7349,
"cdna_start": 484,
"cds_end": null,
"cds_length": 2439,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001178056.2",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171527.1",
"strand": true,
"transcript": "NM_001178056.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 133,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 596,
"cdna_start": 154,
"cds_end": null,
"cds_length": 402,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513738.5",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422355.1",
"strand": true,
"transcript": "ENST00000513738.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 115,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 464,
"cdna_start": 140,
"cds_end": null,
"cds_length": 349,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503046.5",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421708.1",
"strand": true,
"transcript": "ENST00000503046.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 104,
"aa_ref": "R",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 513,
"cdna_start": 346,
"cds_end": null,
"cds_length": 315,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000515175.6",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.148_150delCGAinsTTG",
"hgvs_p": "p.Arg50Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423133.2",
"strand": true,
"transcript": "ENST00000515175.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 76,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 332,
"cdna_start": 125,
"cds_end": null,
"cds_length": 232,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502524.5",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426243.1",
"strand": true,
"transcript": "ENST00000502524.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 57,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": 154,
"cds_end": null,
"cds_length": 174,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503665.5",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427138.1",
"strand": true,
"transcript": "ENST00000503665.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7388,
"cdna_start": 397,
"cds_end": null,
"cds_length": 2565,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543631.4",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541933.1",
"strand": true,
"transcript": "XM_011543631.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 853,
"aa_ref": "R",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7262,
"cdna_start": 397,
"cds_end": null,
"cds_length": 2562,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543632.4",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.148_150delCGAinsTTG",
"hgvs_p": "p.Arg50Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541934.3",
"strand": true,
"transcript": "XM_011543632.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 397,
"cds_end": null,
"cds_length": 2556,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543633.4",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.148_150delCGAinsTTG",
"hgvs_p": "p.Arg50Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541935.3",
"strand": true,
"transcript": "XM_011543633.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 812,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7263,
"cdna_start": 398,
"cds_end": null,
"cds_length": 2439,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417705.1",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.25_27delCGAinsTTG",
"hgvs_p": "p.Arg9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273661.1",
"strand": true,
"transcript": "XM_047417705.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8013,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011543634.3",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.-694_-692delCGAinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541936.1",
"strand": true,
"transcript": "XM_011543634.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7693,
"cdna_start": null,
"cds_end": null,
"cds_length": 1983,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011543643.3",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "c.-776_-774delCGAinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541945.1",
"strand": true,
"transcript": "XM_011543643.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 574,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000503193.5",
"gene_hgnc_id": 26124,
"gene_symbol": "PARP8",
"hgvs_c": "n.25_27delCGAinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424916.1",
"strand": true,
"transcript": "ENST00000503193.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 576,
"cdna_start": null,
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