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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: 5-66025483-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=66025483&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ERBIN",
"hgnc_id": 15842,
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001253699.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 241899,
"alphamissense_prediction": null,
"alphamissense_score": 0.075,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0015951693058013916,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8544,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 4239,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001253697.2",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000284037.10",
"protein_coding": true,
"protein_id": "NP_001240626.1",
"strand": true,
"transcript": "NM_001253697.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8544,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 4239,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000284037.10",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001253697.2",
"protein_coding": true,
"protein_id": "ENSP00000284037.4",
"strand": true,
"transcript": "ENST00000284037.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6432,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 4260,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000506030.6",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426632.1",
"strand": true,
"transcript": "ENST00000506030.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6410,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 4116,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000380943.6",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370330.2",
"strand": true,
"transcript": "ENST00000380943.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1460,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7370,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 4383,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000874140.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544199.1",
"strand": true,
"transcript": "ENST00000874140.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8565,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 4260,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001253699.2",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240628.1",
"strand": true,
"transcript": "NM_001253699.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6420,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 4248,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000699005.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514083.1",
"strand": true,
"transcript": "ENST00000699005.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6534,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 4239,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000874143.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544202.1",
"strand": true,
"transcript": "ENST00000874143.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7299,
"cdna_start": 1907,
"cds_end": null,
"cds_length": 4227,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000925653.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595712.1",
"strand": true,
"transcript": "ENST00000925653.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1389,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6459,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 4170,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000874142.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544201.1",
"strand": true,
"transcript": "ENST00000874142.1",
"transcript_support_level": null
},
{
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"aa_length": 1371,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8421,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 4116,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_018695.4",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061165.1",
"strand": true,
"transcript": "NM_018695.4",
"transcript_support_level": null
},
{
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"aa_length": 1371,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7356,
"cdna_start": 1209,
"cds_end": null,
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"cds_start": 821,
"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000699000.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514078.1",
"strand": true,
"transcript": "ENST00000699000.1",
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},
{
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"cdna_start": 1907,
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000874139.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544198.1",
"strand": true,
"transcript": "ENST00000874139.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1371,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6616,
"cdna_start": 1133,
"cds_end": null,
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"cds_start": 821,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925652.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000595711.1",
"strand": true,
"transcript": "ENST00000925652.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 952,
"cds_end": null,
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"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000956967.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627026.1",
"strand": true,
"transcript": "ENST00000956967.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1370,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6091,
"cdna_start": 565,
"cds_end": null,
"cds_length": 4113,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000511671.6",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Ser188Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425728.2",
"strand": true,
"transcript": "ENST00000511671.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
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"aa_length": 1367,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8409,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 11,
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"feature": "NM_001253701.2",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001240630.1",
"strand": true,
"transcript": "NM_001253701.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000511297.5",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000422766.1",
"strand": true,
"transcript": "ENST00000511297.5",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000699007.1",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514085.1",
"strand": true,
"transcript": "ENST00000699007.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8346,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 4041,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001253698.2",
"gene_hgnc_id": 15842,
"gene_symbol": "ERBIN",
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ser274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240627.1",
"strand": true,
"transcript": "NM_001253698.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 4041,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000380938.6",
"gene_hgnc_id": 15842,
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