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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: 2-147952509-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=147952509&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 147952509,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000392857.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "NM_181741.4",
"protein_id": "NP_859525.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 436,
"cds_start": 452,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "ENST00000392857.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "ENST00000392857.10",
"protein_id": "ENSP00000376597.5",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 436,
"cds_start": 452,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "NM_181741.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "NM_001190879.3",
"protein_id": "NP_001177808.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 436,
"cds_start": 452,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "NM_001374270.1",
"protein_id": "NP_001361199.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 436,
"cds_start": 452,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "NM_002552.5",
"protein_id": "NP_002543.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 436,
"cds_start": 452,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "NM_181742.4",
"protein_id": "NP_859526.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 436,
"cds_start": 452,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 6546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "ENST00000264169.6",
"protein_id": "ENSP00000264169.2",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 436,
"cds_start": 452,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "ENST00000535373.5",
"protein_id": "ENSP00000441953.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 436,
"cds_start": 452,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 6710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Ser77Asn",
"transcript": "NM_001190882.3",
"protein_id": "NP_001177811.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 362,
"cds_start": 230,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 6473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Ser77Asn",
"transcript": "ENST00000540442.5",
"protein_id": "ENSP00000438326.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 362,
"cds_start": 230,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 6472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Ser67Asn",
"transcript": "NM_001190881.3",
"protein_id": "NP_001177810.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 352,
"cds_start": 200,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 6305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Ser67Asn",
"transcript": "NM_001374272.1",
"protein_id": "NP_001361201.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 352,
"cds_start": 200,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 6612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Ser67Asn",
"transcript": "ENST00000536575.5",
"protein_id": "ENSP00000441502.1",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 352,
"cds_start": 200,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 6328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "XM_011511255.3",
"protein_id": "XP_011509557.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 436,
"cds_start": 452,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn",
"transcript": "XM_047444573.1",
"protein_id": "XP_047300529.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 357,
"cds_start": 452,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 574,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.356G>A",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.263G>A",
"hgvs_p": null,
"transcript": "ENST00000478904.5",
"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": 573,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.5G>A",
"hgvs_p": null,
"transcript": "ENST00000483608.1",
"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": 691,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.526G>A",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "n.318G>A",
"hgvs_p": null,
"transcript": "ENST00000496670.6",
"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": 645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"dbsnp": "rs1553452537",
"frequency_reference_population": 6.857121e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85712e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5804280638694763,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.4643,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.85,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000392857.10",
"gene_symbol": "ORC4",
"hgnc_id": 8490,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Ser151Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}