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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: 12-50019128-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50019128&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50019128,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000312377.10",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-4-2409G>C",
"hgvs_p": null,
"transcript": "NM_001319999.2",
"protein_id": "NP_001306928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": "ENST00000312377.10",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-4-2409G>C",
"hgvs_p": null,
"transcript": "ENST00000312377.10",
"protein_id": "ENSP00000309871.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": "NM_001319999.2",
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-5+616G>C",
"hgvs_p": null,
"transcript": "ENST00000427314.6",
"protein_id": "ENSP00000404190.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3229,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-4-2409G>C",
"hgvs_p": null,
"transcript": "ENST00000454520.6",
"protein_id": "ENSP00000404808.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3080,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-78-539G>C",
"hgvs_p": null,
"transcript": "ENST00000547905.5",
"protein_id": "ENSP00000449370.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2190,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-38-539G>C",
"hgvs_p": null,
"transcript": "NM_001320006.2",
"protein_id": "NP_001306935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3176,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-78-539G>C",
"hgvs_p": null,
"transcript": "NM_001126103.3",
"protein_id": "NP_001119575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
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"cdna_length": 3296,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-4-2409G>C",
"hgvs_p": null,
"transcript": "NM_001126104.3",
"protein_id": "NP_001119576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3176,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-78-539G>C",
"hgvs_p": null,
"transcript": "NM_001320000.2",
"protein_id": "NP_001306929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.1-2413G>C",
"hgvs_p": null,
"transcript": "NM_001320001.2",
"protein_id": "NP_001306930.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 632,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "RACGAP1",
"gene_hgnc_id": 9804,
"hgvs_c": "c.-4-2409G>C",
"hgvs_p": null,
"transcript": "NM_001320002.2",
"protein_id": "NP_001306931.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "RACGAP1",
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},
{
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],
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"gene_symbol": "RACGAP1",
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"hgvs_c": "c.-4-2409G>C",
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"transcript": "NM_001320004.2",
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},
{
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],
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"gene_symbol": "RACGAP1",
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"hgvs_c": "c.-5+616G>C",
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"transcript": "NM_013277.5",
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},
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],
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},
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],
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"gene_symbol": "RACGAP1",
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"hgvs_c": "c.1-2413G>C",
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"transcript": "ENST00000552310.5",
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},
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],
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"gene_symbol": "RACGAP1",
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"hgvs_c": "c.-38-539G>C",
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"transcript": "ENST00000548644.5",
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},
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],
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],
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},
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],
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},
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],
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"gene_symbol": "RACGAP1",
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"hgvs_c": "c.-90+6200G>C",
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"transcript": "ENST00000546595.5",
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},
{
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "RACGAP1",
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"hgvs_c": "c.-4-2409G>C",
"hgvs_p": null,
"transcript": "ENST00000552921.5",
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],
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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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"inheritance_mode": "AR",
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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
}