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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: 2-135115363-T-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135115363&ref=T&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135115363,
"ref": "T",
"alt": "TC",
"effect": "frameshift_variant",
"transcript": "ENST00000264158.13",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.630_631insC",
"hgvs_p": "p.Ile211fs",
"transcript": "NM_012233.3",
"protein_id": "NP_036365.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 981,
"cds_start": 631,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "ENST00000264158.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.630_631insC",
"hgvs_p": "p.Ile211fs",
"transcript": "ENST00000264158.13",
"protein_id": "ENSP00000264158.8",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 981,
"cds_start": 631,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "NM_012233.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.630_631insC",
"hgvs_p": "p.Ile211fs",
"transcript": "ENST00000442034.5",
"protein_id": "ENSP00000411418.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 988,
"cds_start": 631,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.630_631insC",
"hgvs_p": "p.Ile211fs",
"transcript": "NM_001172435.2",
"protein_id": "NP_001165906.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 988,
"cds_start": 631,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.630_631insC",
"hgvs_p": "p.Ile211fs",
"transcript": "XM_011510823.4",
"protein_id": "XP_011509125.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1024,
"cds_start": 631,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 3220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.630_631insC",
"hgvs_p": "p.Ile211fs",
"transcript": "XM_011510825.4",
"protein_id": "XP_011509127.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 979,
"cds_start": 631,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.699_700insC",
"hgvs_p": null,
"transcript": "ENST00000487003.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.630_631insC",
"hgvs_p": null,
"transcript": "ENST00000539493.3",
"protein_id": "ENSP00000444306.2",
"transcript_support_level": 5,
"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": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.643_644insC",
"hgvs_p": null,
"transcript": "ENST00000686114.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*698_*699insC",
"hgvs_p": null,
"transcript": "ENST00000687199.1",
"protein_id": "ENSP00000510319.1",
"transcript_support_level": null,
"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": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.649_650insC",
"hgvs_p": null,
"transcript": "ENST00000688088.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.649_650insC",
"hgvs_p": null,
"transcript": "ENST00000689880.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*308_*309insC",
"hgvs_p": null,
"transcript": "ENST00000690208.1",
"protein_id": "ENSP00000510746.1",
"transcript_support_level": null,
"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": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.649_650insC",
"hgvs_p": null,
"transcript": "ENST00000690785.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*253_*254insC",
"hgvs_p": null,
"transcript": "ENST00000691339.1",
"protein_id": "ENSP00000509953.1",
"transcript_support_level": null,
"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": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*729_*730insC",
"hgvs_p": null,
"transcript": "ENST00000691478.1",
"protein_id": "ENSP00000509081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.630_631insC",
"hgvs_p": null,
"transcript": "ENST00000693554.1",
"protein_id": "ENSP00000509030.1",
"transcript_support_level": null,
"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": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.630_631insC",
"hgvs_p": null,
"transcript": "ENST00000713848.1",
"protein_id": "ENSP00000519153.1",
"transcript_support_level": null,
"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": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*95_*96insC",
"hgvs_p": null,
"transcript": "ENST00000713850.1",
"protein_id": "ENSP00000519155.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*651_*652insC",
"hgvs_p": null,
"transcript": "ENST00000713851.1",
"protein_id": "ENSP00000519156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.646_647insC",
"hgvs_p": null,
"transcript": "XR_001738674.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*698_*699insC",
"hgvs_p": null,
"transcript": "ENST00000687199.1",
"protein_id": "ENSP00000510319.1",
"transcript_support_level": null,
"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": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*308_*309insC",
"hgvs_p": null,
"transcript": "ENST00000690208.1",
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],
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{
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"verdict": "Pathogenic",
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],
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],
"clinvar_disease": "RAB3GAP1-related disorder,Warburg micro syndrome 1,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "not provided|Warburg micro syndrome 1|RAB3GAP1-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}