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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: 12-57273478-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57273478&ref=G&alt=C&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": "R3HDM2",
"hgnc_id": 29167,
"hgvs_c": "c.1399-924C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001351204.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000258830",
"hgnc_id": null,
"hgvs_c": "n.*395-3484C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000548184.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000295078",
"hgnc_id": null,
"hgvs_c": "n.809-26399G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000727836.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 67925,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 990,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": null,
"cds_end": null,
"cds_length": 2973,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394031.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1345-3484C>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402412.6",
"protein_coding": true,
"protein_id": "NP_001380960.1",
"strand": false,
"transcript": "NM_001394031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 990,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": null,
"cds_end": null,
"cds_length": 2973,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402412.6",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1345-3484C>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001394031.1",
"protein_coding": true,
"protein_id": "ENSP00000385839.1",
"strand": false,
"transcript": "ENST00000402412.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 976,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": null,
"cds_end": null,
"cds_length": 2931,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347140.7",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1303-3484C>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317903.6",
"strand": false,
"transcript": "ENST00000347140.7",
"transcript_support_level": 1
},
{
"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": 3778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393811.6",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "n.1139-3484C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000393811.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000548184.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258830",
"hgvs_c": "n.*395-3484C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477227.1",
"strand": false,
"transcript": "ENST00000548184.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1042,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": null,
"cds_end": null,
"cds_length": 3129,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351204.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1399-924C>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338133.1",
"strand": false,
"transcript": "NM_001351204.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1042,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4461,
"cdna_start": null,
"cds_end": null,
"cds_length": 3129,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351205.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1399-924C>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338134.1",
"strand": false,
"transcript": "NM_001351205.2",
"transcript_support_level": null
},
{
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"aa_length": 1042,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": null,
"cds_end": null,
"cds_length": 3129,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351206.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1399-924C>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338135.1",
"strand": false,
"transcript": "NM_001351206.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1032,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": null,
"cds_end": null,
"cds_length": 3099,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351207.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1369-924C>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338136.1",
"strand": false,
"transcript": "NM_001351207.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4589,
"cdna_start": null,
"cds_end": null,
"cds_length": 3075,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351208.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1345-924C>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338137.1",
"strand": false,
"transcript": "NM_001351208.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
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"feature": "ENST00000945082.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1345-924C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615141.1",
"strand": false,
"transcript": "ENST00000945082.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001330121.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
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"protein_coding": true,
"protein_id": "NP_001317050.1",
"strand": false,
"transcript": "NM_001330121.2",
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},
{
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"consequences": [
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],
"exon_count": 24,
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"feature": "NM_001330122.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1303-924C>G",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001317051.1",
"strand": false,
"transcript": "NM_001330122.2",
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},
{
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],
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"feature": "ENST00000403821.6",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1303-924C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000385169.2",
"strand": false,
"transcript": "ENST00000403821.6",
"transcript_support_level": 5
},
{
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"cds_length": 3027,
"cds_start": null,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "NM_001351209.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1399-3484C>G",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338138.1",
"strand": false,
"transcript": "NM_001351209.2",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000878714.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1399-3484C>G",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
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},
{
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"consequences": [
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],
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"feature": "ENST00000878715.1",
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},
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000878717.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1399-3484C>G",
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"protein_id": "ENSP00000548776.1",
"strand": false,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
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"feature": "NM_001351211.2",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1369-3484C>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338140.1",
"strand": false,
"transcript": "NM_001351211.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4506,
"cdna_start": null,
"cds_end": null,
"cds_length": 2997,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878710.1",
"gene_hgnc_id": 29167,
"gene_symbol": "R3HDM2",
"hgvs_c": "c.1369-3484C>G",
"hgvs_p": null,
"intron_rank": 16,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548769.1",
"strand": false,
"transcript": "ENST00000878710.1",
"transcript_support_level": null
},
{
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