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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: 15-94453650-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=94453650&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 94453650,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000357742.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2251-4487A>G",
"hgvs_p": null,
"transcript": "NM_001385001.1",
"protein_id": "NP_001371930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7724,
"mane_select": "ENST00000357742.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2251-4487A>G",
"hgvs_p": null,
"transcript": "ENST00000357742.10",
"protein_id": "ENSP00000350377.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7724,
"mane_select": "NM_001385001.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2086-4487A>G",
"hgvs_p": null,
"transcript": "ENST00000451018.7",
"protein_id": "ENSP00000395109.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": -4,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "n.*1789-4487A>G",
"hgvs_p": null,
"transcript": "ENST00000456504.5",
"protein_id": "ENSP00000388887.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2251-4487A>G",
"hgvs_p": null,
"transcript": "NM_001385002.1",
"protein_id": "NP_001371931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2251-4487A>G",
"hgvs_p": null,
"transcript": "NM_001385003.1",
"protein_id": "NP_001371932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2251-4487A>G",
"hgvs_p": null,
"transcript": "NM_018349.4",
"protein_id": "NP_060819.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2209-4487A>G",
"hgvs_p": null,
"transcript": "NM_001385005.1",
"protein_id": "NP_001371934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2128-4487A>G",
"hgvs_p": null,
"transcript": "NM_001385006.1",
"protein_id": "NP_001371935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2086-4487A>G",
"hgvs_p": null,
"transcript": "NM_001159643.2",
"protein_id": "NP_001153115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2086-4487A>G",
"hgvs_p": null,
"transcript": "NM_001385004.1",
"protein_id": "NP_001371933.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 25,
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"gene_symbol": "MCTP2",
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"hgvs_c": "c.1969-4487A>G",
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"transcript": "NM_001385007.1",
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},
{
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],
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"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.1753-4487A>G",
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"transcript": "NM_001385009.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "MCTP2",
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"hgvs_c": "c.1588-4487A>G",
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},
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],
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"gene_symbol": "MCTP2",
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"hgvs_c": "n.2355-4487A>G",
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"transcript": "NR_169526.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "MCTP2",
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"hgvs_c": "n.2758-4487A>G",
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},
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],
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"gene_symbol": "MCTP2",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 19,
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"gene_symbol": "MCTP2",
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"hgvs_c": "n.2658-4487A>G",
"hgvs_p": null,
"transcript": "NR_169529.1",
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},
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],
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"gene_symbol": "MCTP2",
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},
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],
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"gene_symbol": "MCTP2",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 19,
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"gene_symbol": "MCTP2",
"gene_hgnc_id": 25636,
"hgvs_c": "c.2251-4487A>G",
"hgvs_p": null,
"transcript": "XM_047432839.1",
"protein_id": "XP_047288795.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MCTP2",
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"hgvs_c": "c.2251-4487A>G",
"hgvs_p": null,
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},
{
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{
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],
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.147816,
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"gnomad_genomes_ac": 22502,
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"gnomad_genomes_homalt": 1780,
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"computational_score_selected": -0.9900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.288,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357742.10",
"gene_symbol": "MCTP2",
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"effects": [
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"inheritance_mode": "AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}