← Back to variant description
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: 2-147975958-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=147975958&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 147975958,
"ref": "T",
"alt": "C",
"effect": "start_lost",
"transcript": "ENST00000392857.10",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_181741.4",
"protein_id": "NP_859525.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 436,
"cds_start": 1,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "ENST00000392857.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000392857.10",
"protein_id": "ENSP00000376597.5",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 436,
"cds_start": 1,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "NM_181741.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001190879.3",
"protein_id": "NP_001177808.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 436,
"cds_start": 1,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001374270.1",
"protein_id": "NP_001361199.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 436,
"cds_start": 1,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_002552.5",
"protein_id": "NP_002543.2",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 436,
"cds_start": 1,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_181742.4",
"protein_id": "NP_859526.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 436,
"cds_start": 1,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 6546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000264169.6",
"protein_id": "ENSP00000264169.2",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 436,
"cds_start": 1,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000535373.5",
"protein_id": "ENSP00000441953.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 436,
"cds_start": 1,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 6710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000416719.5",
"protein_id": "ENSP00000413939.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 144,
"cds_start": 1,
"cds_end": null,
"cds_length": 436,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000457954.5",
"protein_id": "ENSP00000391484.1",
"transcript_support_level": 4,
"aa_start": 1,
"aa_end": null,
"aa_length": 127,
"cds_start": 1,
"cds_end": null,
"cds_length": 384,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000440042.1",
"protein_id": "ENSP00000403105.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 126,
"cds_start": 1,
"cds_end": null,
"cds_length": 382,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_011511255.3",
"protein_id": "XP_011509557.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 436,
"cds_start": 1,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_047444573.1",
"protein_id": "XP_047300529.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 357,
"cds_start": 1,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.112A>G",
"hgvs_p": null,
"transcript": "ENST00000495601.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.-317A>G",
"hgvs_p": null,
"transcript": "NM_001374272.1",
"protein_id": "NP_001361201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6612,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.-165-2434A>G",
"hgvs_p": null,
"transcript": "NM_001190882.3",
"protein_id": "NP_001177811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6473,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.-165-2434A>G",
"hgvs_p": null,
"transcript": "ENST00000540442.5",
"protein_id": "ENSP00000438326.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6472,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.-27-17092A>G",
"hgvs_p": null,
"transcript": "NM_001190881.3",
"protein_id": "NP_001177810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6305,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.-27-17092A>G",
"hgvs_p": null,
"transcript": "ENST00000536575.5",
"protein_id": "ENSP00000441502.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.130-17092A>G",
"hgvs_p": null,
"transcript": "ENST00000461711.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.132-2434A>G",
"hgvs_p": null,
"transcript": "ENST00000490200.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"dbsnp": "rs1085307083",
"frequency_reference_population": 0.0000019314764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000140433,
"gnomad_genomes_af": 0.00000774917,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9772748947143555,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.436,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.962,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000392857.10",
"gene_symbol": "ORC4",
"hgnc_id": 8490,
"effects": [
"start_lost"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?"
}
],
"clinvar_disease": "Meier-Gorlin syndrome 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Meier-Gorlin syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}