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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: 8-144511755-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144511755&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RECQL4",
"hgnc_id": 9949,
"hgvs_c": "c.3503T>C",
"hgvs_p": "p.Ile1168Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001413019.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": 0.7433,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Baller-Gerold syndrome,Rapadilino syndrome,Rothmund-Thomson syndrome,Rothmund-Thomson syndrome type 2",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18973928689956665,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "I",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 3477,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3428,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_004260.4",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3428T>C",
"hgvs_p": "p.Ile1143Thr",
"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": "T",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "I",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 3477,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3428,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000617875.6",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3428T>C",
"hgvs_p": "p.Ile1143Thr",
"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": "T",
"aa_end": null,
"aa_length": 851,
"aa_ref": "I",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 3554,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2357,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000621189.4",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2357T>C",
"hgvs_p": "p.Ile786Thr",
"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": "T",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "I",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": 3552,
"cds_end": null,
"cds_length": 3702,
"cds_start": 3503,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001413019.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3503T>C",
"hgvs_p": "p.Ile1168Thr",
"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": "T",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "I",
"aa_start": 1146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 3486,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3437,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001413036.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3437T>C",
"hgvs_p": "p.Ile1146Thr",
"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": "T",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "I",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 3447,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3398,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001413039.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3398T>C",
"hgvs_p": "p.Ile1133Thr",
"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": "T",
"aa_end": null,
"aa_length": 1177,
"aa_ref": "I",
"aa_start": 1112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 3385,
"cds_end": null,
"cds_length": 3534,
"cds_start": 3335,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000971710.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3335T>C",
"hgvs_p": "p.Ile1112Thr",
"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": "T",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "I",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 3381,
"cds_end": null,
"cds_length": 3531,
"cds_start": 3332,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001413020.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3332T>C",
"hgvs_p": "p.Ile1111Thr",
"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": "T",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "I",
"aa_start": 1100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3690,
"cdna_start": 3348,
"cds_end": null,
"cds_length": 3498,
"cds_start": 3299,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001413025.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3299T>C",
"hgvs_p": "p.Ile1100Thr",
"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": "T",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "I",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 3345,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001413033.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3296T>C",
"hgvs_p": "p.Ile1099Thr",
"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": "T",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "I",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 3313,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000887977.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3296T>C",
"hgvs_p": "p.Ile1099Thr",
"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": "T",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "I",
"aa_start": 1089,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 3286,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3266,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000922086.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3266T>C",
"hgvs_p": "p.Ile1089Thr",
"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": "T",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "I",
"aa_start": 1077,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 3279,
"cds_end": null,
"cds_length": 3429,
"cds_start": 3230,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001413018.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3230T>C",
"hgvs_p": "p.Ile1077Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399947.1",
"strand": false,
"transcript": "NM_001413018.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "I",
"aa_start": 1045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 3183,
"cds_end": null,
"cds_length": 3333,
"cds_start": 3134,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001413017.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3134T>C",
"hgvs_p": "p.Ile1045Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399946.1",
"strand": false,
"transcript": "NM_001413017.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "I",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 3126,
"cds_end": null,
"cds_length": 3276,
"cds_start": 3077,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001413029.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3077T>C",
"hgvs_p": "p.Ile1026Thr",
"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": "T",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "I",
"aa_start": 995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 3008,
"cds_end": null,
"cds_length": 3183,
"cds_start": 2984,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000922087.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2984T>C",
"hgvs_p": "p.Ile995Thr",
"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": "T",
"aa_end": null,
"aa_length": 876,
"aa_ref": "I",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": 3617,
"cds_end": null,
"cds_length": 2631,
"cds_start": 2432,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001413023.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2432T>C",
"hgvs_p": "p.Ile811Thr",
"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": "T",
"aa_end": null,
"aa_length": 854,
"aa_ref": "I",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3955,
"cdna_start": 3613,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2366,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001413041.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2366T>C",
"hgvs_p": "p.Ile789Thr",
"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": "T",
"aa_end": null,
"aa_length": 851,
"aa_ref": "I",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 3191,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2357,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001413021.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2357T>C",
"hgvs_p": "p.Ile786Thr",
"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": "T",
"aa_end": null,
"aa_length": 851,
"aa_ref": "I",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 3542,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2357,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001413022.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2357T>C",
"hgvs_p": "p.Ile786Thr",
"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": "T",
"aa_end": null,
"aa_length": 851,
"aa_ref": "I",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 3439,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2357,
"consequences": [
"missense_variant"
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197068,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Baller-Gerold syndrome|Rapadilino syndrome;Rothmund-Thomson syndrome;Baller-Gerold syndrome|Rothmund-Thomson syndrome type 2",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.535,
"pos": 144511755,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001413019.1"
}
]
}