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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: 14-64442433-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64442433&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64442433,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000652337.1",
"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": 28,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2136+31G>C",
"hgvs_p": null,
"transcript": "NM_005956.4",
"protein_id": "NP_005947.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": -4,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": "ENST00000652337.1",
"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": 28,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2136+31G>C",
"hgvs_p": null,
"transcript": "ENST00000652337.1",
"protein_id": "ENSP00000498336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": -4,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": "NM_005956.4",
"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": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2136+31G>C",
"hgvs_p": null,
"transcript": "NM_001364837.1",
"protein_id": "NP_001351766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 964,
"cds_start": -4,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3060,
"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": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2136+31G>C",
"hgvs_p": null,
"transcript": "ENST00000545908.6",
"protein_id": "ENSP00000438588.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 964,
"cds_start": -4,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6814,
"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": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2136+31G>C",
"hgvs_p": null,
"transcript": "ENST00000557370.3",
"protein_id": "ENSP00000477199.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": -4,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3082,
"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": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2136+31G>C",
"hgvs_p": null,
"transcript": "ENST00000697168.1",
"protein_id": "ENSP00000513156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": -4,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3038,
"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": 29,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1893+31G>C",
"hgvs_p": null,
"transcript": "ENST00000554768.6",
"protein_id": "ENSP00000477501.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3295,
"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": 28,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1893+31G>C",
"hgvs_p": null,
"transcript": "ENST00000557539.2",
"protein_id": "ENSP00000476468.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3732,
"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": 30,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1893+31G>C",
"hgvs_p": null,
"transcript": "ENST00000697173.1",
"protein_id": "ENSP00000513159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3958,
"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1887+31G>C",
"hgvs_p": null,
"transcript": "ENST00000697174.1",
"protein_id": "ENSP00000513160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
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"cds_length": 2559,
"cdna_start": null,
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"cdna_length": 2897,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.1368+31G>C",
"hgvs_p": null,
"transcript": "ENST00000652509.1",
"protein_id": "ENSP00000499176.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 643,
"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "MTHFD1",
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"hgvs_c": "n.458+31G>C",
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"transcript": "ENST00000553405.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 2,
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"gene_symbol": "ENSG00000258824",
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"hgvs_c": "n.505+5620C>G",
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"transcript": "ENST00000556640.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "MTHFD1",
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"hgvs_c": "n.367+31G>C",
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"transcript": "ENST00000556771.6",
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},
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],
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 21,
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"gene_symbol": "MTHFD1",
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"hgvs_c": "n.2136+31G>C",
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"transcript": "ENST00000651537.1",
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},
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],
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"gene_symbol": "MTHFD1",
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"transcript": "ENST00000652179.1",
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},
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"strand": true,
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],
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"gene_symbol": "MTHFD1",
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"hgvs_c": "n.2285+31G>C",
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"transcript": "ENST00000697166.1",
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},
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],
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"exon_count": 26,
"intron_rank": 20,
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"gene_symbol": "MTHFD1",
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"hgvs_c": "n.*820+31G>C",
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],
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "MTHFD1",
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"hgvs_c": "n.2136+31G>C",
"hgvs_p": null,
"transcript": "ENST00000697171.1",
"protein_id": "ENSP00000513158.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.*932+31G>C",
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"transcript": "ENST00000697175.1",
"protein_id": "ENSP00000513161.1",
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},
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},
{
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],
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},
{
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}
],
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"allele_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.84,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000652337.1",
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"effects": [
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"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000556640.1",
"gene_symbol": "ENSG00000258824",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.505+5620C>G",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000609125.1",
"gene_symbol": "ENSG00000272909",
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"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-195C>G",
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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
}