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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: 11-14291958-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=14291958&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 14291958,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000256196.9",
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.408+2513A>G",
"hgvs_p": null,
"transcript": "NM_012250.6",
"protein_id": "NP_036382.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": "ENST00000256196.9",
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.408+2513A>G",
"hgvs_p": null,
"transcript": "ENST00000256196.9",
"protein_id": "ENSP00000256196.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": "NM_012250.6",
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "ENST00000526063.5",
"protein_id": "ENSP00000434104.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 970,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "ENST00000532814.5",
"protein_id": "ENSP00000431954.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 982,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.408+2513A>G",
"hgvs_p": null,
"transcript": "NM_001440708.1",
"protein_id": "NP_001427637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2481,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "NM_001440709.1",
"protein_id": "NP_001427638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2383,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "NM_001440710.1",
"protein_id": "NP_001427639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2290,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "NM_001440711.1",
"protein_id": "NP_001427640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2268,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.303+2513A>G",
"hgvs_p": null,
"transcript": "NM_001177314.2",
"protein_id": "NP_001170785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2038,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.303+2513A>G",
"hgvs_p": null,
"transcript": "ENST00000537760.5",
"protein_id": "ENSP00000437547.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2034,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.351+2513A>G",
"hgvs_p": null,
"transcript": "ENST00000531807.5",
"protein_id": "ENSP00000435453.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 165,
"cds_start": -4,
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"cdna_start": null,
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"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": 6,
"intron_rank": 4,
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"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
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"transcript": "NM_001102669.3",
"protein_id": "NP_001096139.1",
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"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": 6,
"intron_rank": 4,
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"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "NM_001177315.2",
"protein_id": "NP_001170786.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
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"transcript": "NM_001440712.1",
"protein_id": "NP_001427641.1",
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},
{
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],
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"gene_symbol": "RRAS2",
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"hgvs_c": "c.177+2513A>G",
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"transcript": "NM_001440713.1",
"protein_id": "NP_001427642.1",
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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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "NM_001440714.1",
"protein_id": "NP_001427643.1",
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},
{
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],
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"gene_symbol": "RRAS2",
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"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "NM_001440715.1",
"protein_id": "NP_001427644.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "RRAS2",
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"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "ENST00000414023.6",
"protein_id": "ENSP00000403282.2",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
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"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "ENST00000529237.5",
"protein_id": "ENSP00000433230.1",
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},
{
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],
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"gene_symbol": "RRAS2",
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"transcript": "ENST00000534746.5",
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},
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],
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"gene_symbol": "RRAS2",
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"hgvs_c": "c.177+2513A>G",
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"transcript": "ENST00000531421.5",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "n.*348+2513A>G",
"hgvs_p": null,
"transcript": "ENST00000532950.5",
"protein_id": "ENSP00000436190.1",
"transcript_support_level": 3,
"aa_start": null,
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"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,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RRAS2",
"gene_hgnc_id": 17271,
"hgvs_c": "c.177+2513A>G",
"hgvs_p": null,
"transcript": "XM_047426567.1",
"protein_id": "XP_047282523.1",
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"cdna_start": null,
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"mane_select": null,
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},
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "RRAS2",
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"hgvs_c": "c.177+2513A>G",
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"transcript": "XM_047426568.1",
"protein_id": "XP_047282524.1",
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"aa_start": null,
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"aa_length": 127,
"cds_start": -4,
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"cds_length": 384,
"cdna_start": null,
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"cdna_length": 1943,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RRAS2",
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"dbsnp": "rs2163460",
"frequency_reference_population": 0.85101044,
"hom_count_reference_population": 55454,
"allele_count_reference_population": 129534,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.85101,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 129534,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 55454,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.02,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.863,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "ENST00000256196.9",
"gene_symbol": "RRAS2",
"hgnc_id": 17271,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.408+2513A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}