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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: 8-144513266-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144513266&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RECQL4",
"hgnc_id": 9949,
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Ala805Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001413019.1",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000265393",
"hgnc_id": null,
"hgvs_c": "n.272-340G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000580385.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 1832,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "8",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Baller-Gerold syndrome,Inborn genetic diseases,Rapadilino syndrome,Rothmund-Thomson syndrome type 2,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.75,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "A",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 3627,
"cds_start": 2415,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_004260.4",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Ala805Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000617875.6",
"protein_coding": true,
"protein_id": "NP_004251.4",
"strand": false,
"transcript": "NM_004260.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "A",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 3627,
"cds_start": 2415,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000617875.6",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Ala805Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004260.4",
"protein_coding": true,
"protein_id": "ENSP00000482313.2",
"strand": false,
"transcript": "ENST00000617875.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2556,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000621189.4",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ala448Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483145.1",
"strand": false,
"transcript": "ENST00000621189.4",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "A",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 3702,
"cds_start": 2415,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001413019.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Ala805Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399948.1",
"strand": false,
"transcript": "NM_001413019.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "A",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 3636,
"cds_start": 2415,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001413036.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2415C>T",
"hgvs_p": "p.Ala805Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399965.1",
"strand": false,
"transcript": "NM_001413036.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "A",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 3597,
"cds_start": 2385,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001413039.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2385C>T",
"hgvs_p": "p.Ala795Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399968.1",
"strand": false,
"transcript": "NM_001413039.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1177,
"aa_ref": "A",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 3534,
"cds_start": 2322,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000971710.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2322C>T",
"hgvs_p": "p.Ala774Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641769.1",
"strand": false,
"transcript": "ENST00000971710.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "A",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 3531,
"cds_start": 2319,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001413020.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2319C>T",
"hgvs_p": "p.Ala773Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399949.1",
"strand": false,
"transcript": "NM_001413020.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "A",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3690,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2286,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001413025.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2286C>T",
"hgvs_p": "p.Ala762Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399954.1",
"strand": false,
"transcript": "NM_001413025.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 2332,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2283,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001413033.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2283C>T",
"hgvs_p": "p.Ala761Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399962.1",
"strand": false,
"transcript": "NM_001413033.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2283,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000887977.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2283C>T",
"hgvs_p": "p.Ala761Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558036.1",
"strand": false,
"transcript": "ENST00000887977.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "A",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 2273,
"cds_end": null,
"cds_length": 3465,
"cds_start": 2253,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000922086.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2253C>T",
"hgvs_p": "p.Ala751Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592145.1",
"strand": false,
"transcript": "ENST00000922086.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "A",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 3276,
"cds_start": 2064,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001413029.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2064C>T",
"hgvs_p": "p.Ala688Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399958.1",
"strand": false,
"transcript": "NM_001413029.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "A",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 3183,
"cds_start": 1971,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000922087.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.1971C>T",
"hgvs_p": "p.Ala657Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592146.1",
"strand": false,
"transcript": "ENST00000922087.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 876,
"aa_ref": "A",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2631,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001413023.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ala448Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399952.1",
"strand": false,
"transcript": "NM_001413023.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 854,
"aa_ref": "A",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3955,
"cdna_start": 2525,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001413041.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Ala426Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399970.1",
"strand": false,
"transcript": "NM_001413041.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 2556,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001413021.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ala448Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399950.1",
"strand": false,
"transcript": "NM_001413021.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2556,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001413022.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ala448Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399951.1",
"strand": false,
"transcript": "NM_001413022.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 2426,
"cds_end": null,
"cds_length": 2556,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001413024.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ala448Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399953.1",
"strand": false,
"transcript": "NM_001413024.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3609,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 2556,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001413028.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ala448Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399957.1",
"strand": false,
"transcript": "NM_001413028.1",
"transcript_support_level": null
},
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}
],
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"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Baller-Gerold syndrome|not specified|not provided|Rothmund-Thomson syndrome type 2|Rapadilino syndrome|Inborn genetic diseases",
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}
]
}