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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: 22-50780578-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50780578&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50780578,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000691320.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "NM_001130919.3",
"protein_id": "NP_001124391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": -4,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": "ENST00000691320.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "ENST00000691320.1",
"protein_id": "ENSP00000509250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": -4,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": "NM_001130919.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "ENST00000395593.7",
"protein_id": "ENSP00000378958.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": -4,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "ENST00000354869.8",
"protein_id": "ENSP00000346940.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": -4,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "ENST00000395595.8",
"protein_id": "ENSP00000378960.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": -4,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "ENST00000395598.7",
"protein_id": "ENSP00000378962.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "ENST00000435118.5",
"protein_id": "ENSP00000401906.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "ENST00000395591.5",
"protein_id": "ENSP00000378956.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "n.107+1610C>T",
"hgvs_p": null,
"transcript": "ENST00000425098.5",
"protein_id": "ENSP00000399988.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291064",
"gene_hgnc_id": null,
"hgvs_c": "n.388-2542G>A",
"hgvs_p": null,
"transcript": "ENST00000496652.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "NM_001350008.2",
"protein_id": "NP_001336937.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 239,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "RABL2B",
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"hgvs_c": "c.107+1610C>T",
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"transcript": "NM_001350009.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
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"transcript": "NM_001350010.2",
"protein_id": "NP_001336939.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "RABL2B",
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"hgvs_c": "c.107+1610C>T",
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"transcript": "NM_001350011.2",
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},
{
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],
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"gene_symbol": "RABL2B",
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"hgvs_c": "c.107+1610C>T",
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"transcript": "NM_001350012.2",
"protein_id": "NP_001336941.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "RABL2B",
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"hgvs_c": "c.107+1610C>T",
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"transcript": "NM_001130923.3",
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},
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],
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"gene_symbol": "RABL2B",
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"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "NM_001350013.2",
"protein_id": "NP_001336942.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "NM_001350014.2",
"protein_id": "NP_001336943.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "RABL2B",
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},
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],
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"gene_symbol": "RABL2B",
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},
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],
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"gene_symbol": "RABL2B",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "NM_001003789.3",
"protein_id": "NP_001003789.1",
"transcript_support_level": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABL2B",
"gene_hgnc_id": 9800,
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null,
"transcript": "NM_001130920.3",
"protein_id": "NP_001124392.1",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.413,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000691320.1",
"gene_symbol": "RABL2B",
"hgnc_id": 9800,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.107+1610C>T",
"hgvs_p": null
},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000496652.6",
"gene_symbol": "ENSG00000291064",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.388-2542G>A",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_026981.1",
"gene_symbol": "RPL23AP82",
"hgnc_id": 33730,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.242-2542G>A",
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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
}