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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: 17-8228310-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8228310&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CTC1",
"hgnc_id": 26169,
"hgvs_c": "c.3524G>A",
"hgvs_p": "p.Arg1175Gln",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_025099.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 199,
"alphamissense_prediction": null,
"alphamissense_score": 0.0888,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cerebroretinal microangiopathy with calcifications and cysts 1,Dyskeratosis congenita",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10563957691192627,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 1175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7039,
"cdna_start": 3544,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3524,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_025099.6",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3524G>A",
"hgvs_p": "p.Arg1175Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651323.1",
"protein_coding": true,
"protein_id": "NP_079375.3",
"strand": false,
"transcript": "NM_025099.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 1175,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7039,
"cdna_start": 3544,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3524,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000651323.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3524G>A",
"hgvs_p": "p.Arg1175Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025099.6",
"protein_coding": true,
"protein_id": "ENSP00000498499.1",
"strand": false,
"transcript": "ENST00000651323.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "R",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4947,
"cdna_start": 3513,
"cds_end": null,
"cds_length": 3621,
"cds_start": 3491,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000932859.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3491G>A",
"hgvs_p": "p.Arg1164Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602918.1",
"strand": false,
"transcript": "ENST00000932859.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "R",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 3433,
"cds_end": null,
"cds_length": 3558,
"cds_start": 3428,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000968384.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3428G>A",
"hgvs_p": "p.Arg1143Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638443.1",
"strand": false,
"transcript": "ENST00000968384.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "R",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6808,
"cdna_start": 3313,
"cds_end": null,
"cds_length": 3423,
"cds_start": 3293,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001411067.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397996.1",
"strand": false,
"transcript": "NM_001411067.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "R",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 3315,
"cds_end": null,
"cds_length": 3423,
"cds_start": 3293,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000581729.2",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462720.2",
"strand": false,
"transcript": "ENST00000581729.2",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "R",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 3282,
"cds_end": null,
"cds_length": 3390,
"cds_start": 3260,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000580299.2",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3260G>A",
"hgvs_p": "p.Arg1087Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462607.2",
"strand": false,
"transcript": "ENST00000580299.2",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "R",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 3252,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3236,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000932861.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3236G>A",
"hgvs_p": "p.Arg1079Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602920.1",
"strand": false,
"transcript": "ENST00000932861.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 3226,
"cds_end": null,
"cds_length": 3348,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000868169.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3218G>A",
"hgvs_p": "p.Arg1073Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538228.1",
"strand": false,
"transcript": "ENST00000868169.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "R",
"aa_start": 1055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4593,
"cdna_start": 3170,
"cds_end": null,
"cds_length": 3294,
"cds_start": 3164,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000932860.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3164G>A",
"hgvs_p": "p.Arg1055Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602919.1",
"strand": false,
"transcript": "ENST00000932860.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 841,
"aa_ref": "R",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": 3134,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2396,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000699849.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.2396G>A",
"hgvs_p": "p.Arg799Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514647.1",
"strand": false,
"transcript": "ENST00000699849.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "R",
"aa_start": 1140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6934,
"cdna_start": 3439,
"cds_end": null,
"cds_length": 3549,
"cds_start": 3419,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011524010.3",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3419G>A",
"hgvs_p": "p.Arg1140Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522312.1",
"strand": false,
"transcript": "XM_011524010.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1174,
"aa_ref": "R",
"aa_start": 1132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6910,
"cdna_start": 3415,
"cds_end": null,
"cds_length": 3525,
"cds_start": 3395,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_006721577.4",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3395G>A",
"hgvs_p": "p.Arg1132Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721640.1",
"strand": false,
"transcript": "XM_006721577.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "R",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6805,
"cdna_start": 3310,
"cds_end": null,
"cds_length": 3420,
"cds_start": 3290,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047436799.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3290G>A",
"hgvs_p": "p.Arg1097Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292755.1",
"strand": false,
"transcript": "XM_047436799.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "R",
"aa_start": 1063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6703,
"cdna_start": 3208,
"cds_end": null,
"cds_length": 3318,
"cds_start": 3188,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047436801.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3188G>A",
"hgvs_p": "p.Arg1063Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292757.1",
"strand": false,
"transcript": "XM_047436801.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "R",
"aa_start": 1055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6679,
"cdna_start": 3184,
"cds_end": null,
"cds_length": 3294,
"cds_start": 3164,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047436802.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3164G>A",
"hgvs_p": "p.Arg1055Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292758.1",
"strand": false,
"transcript": "XM_047436802.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6465,
"cdna_start": 2970,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011524011.3",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.2627G>A",
"hgvs_p": "p.Arg876Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522313.1",
"strand": false,
"transcript": "XM_011524011.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 918,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6461,
"cdna_start": 2966,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047436807.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.2627G>A",
"hgvs_p": "p.Arg876Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292763.1",
"strand": false,
"transcript": "XM_047436807.1",
"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": 4795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000449476.7",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*258G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396018.2",
"strand": false,
"transcript": "ENST00000449476.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3887,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000581671.2",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.3513G>A",
"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": "ENST00000581671.2",
"transcript_support_level": 3
},
{
"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": 4859,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
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"phylop100way_score": 0.882,
"pos": 8228310,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.182,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_025099.6"
}
]
}