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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: 2-96278360-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96278360&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96278360,
"ref": "T",
"alt": "C",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_014014.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"hgvs_c": "c.5489-2A>G",
"hgvs_p": null,
"transcript": "NM_014014.5",
"protein_id": "NP_054733.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2136,
"cds_start": null,
"cds_end": null,
"cds_length": 6411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": "ENST00000323853.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014014.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"hgvs_c": "c.5489-2A>G",
"hgvs_p": null,
"transcript": "ENST00000323853.10",
"protein_id": "ENSP00000317123.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2136,
"cds_start": null,
"cds_end": null,
"cds_length": 6411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": "NM_014014.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323853.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"hgvs_c": "n.1463-2A>G",
"hgvs_p": null,
"transcript": "ENST00000497539.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000497539.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"hgvs_c": "c.5522-2A>G",
"hgvs_p": null,
"transcript": "ENST00000914240.1",
"protein_id": "ENSP00000584299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2147,
"cds_start": null,
"cds_end": null,
"cds_length": 6444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914240.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"hgvs_c": "c.5486-2A>G",
"hgvs_p": null,
"transcript": "ENST00000960227.1",
"protein_id": "ENSP00000630286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2135,
"cds_start": null,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"hgvs_c": "c.5489-2A>G",
"hgvs_p": null,
"transcript": "ENST00000960226.1",
"protein_id": "ENSP00000630285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2134,
"cds_start": null,
"cds_end": null,
"cds_length": 6405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"hgvs_c": "c.5405-2A>G",
"hgvs_p": null,
"transcript": "ENST00000880043.1",
"protein_id": "ENSP00000550102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2108,
"cds_start": null,
"cds_end": null,
"cds_length": 6327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"hgvs_c": "n.1458-2A>G",
"hgvs_p": null,
"transcript": "ENST00000429650.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000429650.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"hgvs_c": "n.-1A>G",
"hgvs_p": null,
"transcript": "ENST00000480835.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480835.1"
}
],
"gene_symbol": "SNRNP200",
"gene_hgnc_id": 30859,
"dbsnp": "rs1553439227",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12999999523162842,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9319999814033508,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.484,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999978952611685,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_014014.5",
"gene_symbol": "SNRNP200",
"hgnc_id": 30859,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5489-2A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Rod-cone dystrophy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Rod-cone dystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}