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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: 10-73759735-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73759735&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEC24C",
"hgnc_id": 10705,
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004922.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288823",
"hgnc_id": null,
"hgvs_c": "n.235-7867G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000759011.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1645,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24252596497535706,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4445,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3285,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_198597.3",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345254.9",
"protein_coding": true,
"protein_id": "NP_940999.1",
"strand": true,
"transcript": "NM_198597.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4445,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3285,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000345254.9",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198597.3",
"protein_coding": true,
"protein_id": "ENSP00000321845.6",
"strand": true,
"transcript": "ENST00000345254.9",
"transcript_support_level": 1
},
{
"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": 4668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000465076.5",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "n.422C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437000.1",
"strand": true,
"transcript": "ENST00000465076.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1096,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3729,
"cdna_start": 504,
"cds_end": null,
"cds_length": 3291,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893972.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564031.1",
"strand": true,
"transcript": "ENST00000893972.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3288,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893965.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564024.1",
"strand": true,
"transcript": "ENST00000893965.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 603,
"cds_end": null,
"cds_length": 3285,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004922.4",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004913.2",
"strand": true,
"transcript": "NM_004922.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 584,
"cds_end": null,
"cds_length": 3285,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000339365.2",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343405.2",
"strand": true,
"transcript": "ENST00000339365.2",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 532,
"cds_end": null,
"cds_length": 3285,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893967.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564026.1",
"strand": true,
"transcript": "ENST00000893967.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4521,
"cdna_start": 589,
"cds_end": null,
"cds_length": 3285,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893970.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564029.1",
"strand": true,
"transcript": "ENST00000893970.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4474,
"cdna_start": 548,
"cds_end": null,
"cds_length": 3285,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893971.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564030.1",
"strand": true,
"transcript": "ENST00000893971.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 743,
"cds_end": null,
"cds_length": 3285,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000939918.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609977.1",
"strand": true,
"transcript": "ENST00000939918.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4746,
"cdna_start": 811,
"cds_end": null,
"cds_length": 3285,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000939921.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609980.1",
"strand": true,
"transcript": "ENST00000939921.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3279,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893963.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564022.1",
"strand": true,
"transcript": "ENST00000893963.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4398,
"cdna_start": 504,
"cds_end": null,
"cds_length": 3246,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893966.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564025.1",
"strand": true,
"transcript": "ENST00000893966.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4373,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3207,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893962.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564021.1",
"strand": true,
"transcript": "ENST00000893962.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4426,
"cdna_start": 575,
"cds_end": null,
"cds_length": 3207,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893969.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564028.1",
"strand": true,
"transcript": "ENST00000893969.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4370,
"cdna_start": 513,
"cds_end": null,
"cds_length": 3201,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893961.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564020.1",
"strand": true,
"transcript": "ENST00000893961.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4432,
"cdna_start": 582,
"cds_end": null,
"cds_length": 3201,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000939923.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609982.1",
"strand": true,
"transcript": "ENST00000939923.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4350,
"cdna_start": 508,
"cds_end": null,
"cds_length": 3201,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000939925.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609984.1",
"strand": true,
"transcript": "ENST00000939925.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": 488,
"cds_end": null,
"cds_length": 3168,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893968.1",
"gene_hgnc_id": 10705,
"gene_symbol": "SEC24C",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Ser141Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564027.1",
"strand": true,
"transcript": "ENST00000893968.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "S",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4230,
"cdna_start": 474,
"cds_end": null,
"cds_length": 3114,
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