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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: 3-29341050-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=29341050&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 29341050,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000383767.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.75+59294C>A",
"hgvs_p": null,
"transcript": "NM_001003793.3",
"protein_id": "NP_001003793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8449,
"mane_select": "ENST00000383767.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.75+59294C>A",
"hgvs_p": null,
"transcript": "ENST00000383767.7",
"protein_id": "ENSP00000373277.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8449,
"mane_select": "NM_001003793.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.75+59294C>A",
"hgvs_p": null,
"transcript": "ENST00000456853.1",
"protein_id": "ENSP00000400519.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.75+59294C>A",
"hgvs_p": null,
"transcript": "ENST00000273139.13",
"protein_id": "ENSP00000273139.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.75+59294C>A",
"hgvs_p": null,
"transcript": "ENST00000383766.6",
"protein_id": "ENSP00000373276.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283563",
"gene_hgnc_id": null,
"hgvs_c": "n.*583-93693C>A",
"hgvs_p": null,
"transcript": "ENST00000635992.1",
"protein_id": "ENSP00000489994.1",
"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": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.457-93696C>A",
"hgvs_p": null,
"transcript": "ENST00000636680.2",
"protein_id": "ENSP00000490271.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": -4,
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"cds_length": 1692,
"cdna_start": null,
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"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.75+59294C>A",
"hgvs_p": null,
"transcript": "NM_001330696.1",
"protein_id": "NP_001317625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.75+59294C>A",
"hgvs_p": null,
"transcript": "ENST00000434693.6",
"protein_id": "ENSP00000395592.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
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"cds_length": 1311,
"cdna_start": null,
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"cdna_length": 8540,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "RBMS3",
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"hgvs_c": "c.75+59294C>A",
"hgvs_p": null,
"transcript": "NM_001177712.2",
"protein_id": "NP_001171183.1",
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"aa_start": null,
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"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"hgvs_c": "c.75+59294C>A",
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"transcript": "NM_001177711.2",
"protein_id": "NP_001171182.1",
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},
{
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],
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"gene_symbol": "RBMS3",
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"transcript": "ENST00000452462.5",
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},
{
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],
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"gene_symbol": "RBMS3",
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"hgvs_c": "c.75+59294C>A",
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"transcript": "NM_014483.4",
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},
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],
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"gene_symbol": "RBMS3",
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"hgvs_c": "c.75+59294C>A",
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},
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],
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"transcript": "ENST00000445033.5",
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},
{
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],
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"gene_symbol": "RBMS3",
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],
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"gene_symbol": "RBMS3",
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"hgvs_c": "n.*170-93693C>A",
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"transcript": "ENST00000637842.1",
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},
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],
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"gene_symbol": "RBMS3",
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"hgvs_c": "c.75+59294C>A",
"hgvs_p": null,
"transcript": "XM_024453454.2",
"protein_id": "XP_024309222.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "RBMS3",
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],
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],
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"hgvs_c": "c.75+59294C>A",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "RBMS3",
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}
],
"gene_symbol": "RBMS3",
"gene_hgnc_id": 13427,
"dbsnp": "rs7431530",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.316,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000383767.7",
"gene_symbol": "RBMS3",
"hgnc_id": 13427,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.75+59294C>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000635992.1",
"gene_symbol": "ENSG00000283563",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*583-93693C>A",
"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
}