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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: 11-61754149-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61754149&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MYRF",
"hgnc_id": 1181,
"hgvs_c": "c.46+1359G>T",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001127392.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MYRF-AS1",
"hgnc_id": 24506,
"hgvs_c": "n.823C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000244906.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "11",
"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": 1151,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5940,
"cdna_start": null,
"cds_end": null,
"cds_length": 3456,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127392.3",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278836.10",
"protein_coding": true,
"protein_id": "NP_001120864.1",
"strand": true,
"transcript": "NM_001127392.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1151,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5940,
"cdna_start": null,
"cds_end": null,
"cds_length": 3456,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000278836.10",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127392.3",
"protein_coding": true,
"protein_id": "ENSP00000278836.4",
"strand": true,
"transcript": "ENST00000278836.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 950,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000244906.7",
"gene_hgnc_id": 24506,
"gene_symbol": "MYRF-AS1",
"hgvs_c": "n.823C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000244906.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536405.6",
"gene_hgnc_id": 24506,
"gene_symbol": "MYRF-AS1",
"hgvs_c": "n.532+1486C>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000536405.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1152,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5920,
"cdna_start": null,
"cds_end": null,
"cds_length": 3459,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856811.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526870.1",
"strand": true,
"transcript": "ENST00000856811.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1147,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5934,
"cdna_start": null,
"cds_end": null,
"cds_length": 3444,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856806.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526865.1",
"strand": true,
"transcript": "ENST00000856806.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1146,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5943,
"cdna_start": null,
"cds_end": null,
"cds_length": 3441,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856800.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526859.1",
"strand": true,
"transcript": "ENST00000856800.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1125,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5905,
"cdna_start": null,
"cds_end": null,
"cds_length": 3378,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856799.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526858.1",
"strand": true,
"transcript": "ENST00000856799.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1124,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5836,
"cdna_start": null,
"cds_end": null,
"cds_length": 3375,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856812.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526871.1",
"strand": true,
"transcript": "ENST00000856812.1",
"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": 5857,
"cdna_start": null,
"cds_end": null,
"cds_length": 3363,
"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856803.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
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"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526862.1",
"strand": true,
"transcript": "ENST00000856803.1",
"transcript_support_level": null
},
{
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"aa_length": 1119,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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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": "ENST00000856801.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526860.1",
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},
{
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"cdna_start": null,
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],
"exon_count": 28,
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"feature": "ENST00000856808.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
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},
{
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],
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"feature": "ENST00000856810.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526869.1",
"strand": true,
"transcript": "ENST00000856810.1",
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},
{
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"consequences": [
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],
"exon_count": 26,
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"feature": "ENST00000918479.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
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"protein_id": "ENSP00000588538.1",
"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000856804.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526863.1",
"strand": true,
"transcript": "ENST00000856804.1",
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},
{
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000856798.1",
"gene_hgnc_id": 1181,
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"hgvs_c": "c.46+1359G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526857.1",
"strand": true,
"transcript": "ENST00000856798.1",
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},
{
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],
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"feature": "ENST00000856802.1",
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],
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"feature": "ENST00000856809.1",
"gene_hgnc_id": 1181,
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},
{
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],
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"feature": "ENST00000918478.1",
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"protein_coding": true,
"protein_id": "ENSP00000588537.1",
"strand": true,
"transcript": "ENST00000918478.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000856805.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526864.1",
"strand": true,
"transcript": "ENST00000856805.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3066,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
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"feature": "ENST00000856813.1",
"gene_hgnc_id": 1181,
"gene_symbol": "MYRF",
"hgvs_c": "c.46+1359G>T",
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