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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: 14-64439547-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64439547&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MTHFD1",
"hgnc_id": 7432,
"hgvs_c": "c.1674+375G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001364837.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000258824",
"hgnc_id": null,
"hgvs_c": "n.505+8506C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000556640.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 7991,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 935,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": null,
"cds_end": null,
"cds_length": 2808,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005956.4",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652337.1",
"protein_coding": true,
"protein_id": "NP_005947.3",
"strand": true,
"transcript": "NM_005956.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 935,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": null,
"cds_end": null,
"cds_length": 2808,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652337.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005956.4",
"protein_coding": true,
"protein_id": "ENSP00000498336.1",
"strand": true,
"transcript": "ENST00000652337.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555252.5",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "n.1731+375G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000555252.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 964,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": null,
"cds_end": null,
"cds_length": 2895,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001364837.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351766.1",
"strand": true,
"transcript": "NM_001364837.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 964,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6814,
"cdna_start": null,
"cds_end": null,
"cds_length": 2895,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545908.6",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438588.2",
"strand": true,
"transcript": "ENST00000545908.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 962,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": null,
"cds_end": null,
"cds_length": 2889,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900031.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1755+375G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570090.1",
"strand": true,
"transcript": "ENST00000900031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 952,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": null,
"cds_end": null,
"cds_length": 2859,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940490.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1725+375G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610549.1",
"strand": true,
"transcript": "ENST00000940490.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 935,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4581,
"cdna_start": null,
"cds_end": null,
"cds_length": 2808,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940495.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610554.1",
"strand": true,
"transcript": "ENST00000940495.1",
"transcript_support_level": null
},
{
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"aa_length": 935,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": null,
"cds_end": null,
"cds_length": 2808,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941180.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
"hgvs_p": null,
"intron_rank": 17,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611239.1",
"strand": true,
"transcript": "ENST00000941180.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": null,
"cds_end": null,
"cds_length": 2799,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900023.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1665+375G>A",
"hgvs_p": null,
"intron_rank": 17,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570082.1",
"strand": true,
"transcript": "ENST00000900023.1",
"transcript_support_level": null
},
{
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"aa_length": 926,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
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"feature": "ENST00000940488.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1647+375G>A",
"hgvs_p": null,
"intron_rank": 17,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000610547.1",
"strand": true,
"transcript": "ENST00000940488.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
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"feature": "ENST00000557370.3",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000477199.2",
"strand": true,
"transcript": "ENST00000557370.3",
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},
{
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000900025.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
"hgvs_p": null,
"intron_rank": 17,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570084.1",
"strand": true,
"transcript": "ENST00000900025.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000940494.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
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"protein_coding": true,
"protein_id": "ENSP00000610553.1",
"strand": true,
"transcript": "ENST00000940494.1",
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},
{
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"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000940489.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1527+375G>A",
"hgvs_p": null,
"intron_rank": 16,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000610548.1",
"strand": true,
"transcript": "ENST00000940489.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000697168.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1674+375G>A",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513156.1",
"strand": true,
"transcript": "ENST00000697168.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000940486.1",
"gene_hgnc_id": 7432,
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"hgvs_c": "c.1521+375G>A",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
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},
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],
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"feature": "ENST00000940485.1",
"gene_hgnc_id": 7432,
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"hgvs_c": "c.1674+375G>A",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000940485.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000900024.1",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1434+375G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570083.1",
"strand": true,
"transcript": "ENST00000900024.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2565,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554768.6",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
"hgvs_c": "c.1431+375G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477501.2",
"strand": true,
"transcript": "ENST00000554768.6",
"transcript_support_level": 4
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2565,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557539.2",
"gene_hgnc_id": 7432,
"gene_symbol": "MTHFD1",
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