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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: 7-104166864-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=104166864&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 104166864,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002553.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.898G>T",
"hgvs_p": "p.Val300Leu",
"transcript": "NM_002553.4",
"protein_id": "NP_002544.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 435,
"cds_start": 898,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297431.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002553.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.898G>T",
"hgvs_p": "p.Val300Leu",
"transcript": "ENST00000297431.9",
"protein_id": "ENSP00000297431.4",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 435,
"cds_start": 898,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002553.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297431.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.991G>T",
"hgvs_p": "p.Val331Leu",
"transcript": "ENST00000938620.1",
"protein_id": "ENSP00000608679.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 466,
"cds_start": 991,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938620.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Val327Leu",
"transcript": "ENST00000884268.1",
"protein_id": "ENSP00000554327.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 462,
"cds_start": 979,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884268.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.898G>T",
"hgvs_p": "p.Val300Leu",
"transcript": "ENST00000938616.1",
"protein_id": "ENSP00000608675.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 419,
"cds_start": 898,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938616.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.805G>T",
"hgvs_p": "p.Val269Leu",
"transcript": "ENST00000884266.1",
"protein_id": "ENSP00000554325.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 404,
"cds_start": 805,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884266.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.898G>T",
"hgvs_p": "p.Val300Leu",
"transcript": "ENST00000953178.1",
"protein_id": "ENSP00000623237.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 398,
"cds_start": 898,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953178.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.898G>T",
"hgvs_p": "p.Val300Leu",
"transcript": "ENST00000953179.1",
"protein_id": "ENSP00000623238.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 382,
"cds_start": 898,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953179.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Val233Leu",
"transcript": "ENST00000938619.1",
"protein_id": "ENSP00000608678.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 368,
"cds_start": 697,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938619.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.*44G>T",
"hgvs_p": null,
"transcript": "XM_047420431.1",
"protein_id": "XP_047276387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420431.1"
},
{
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.971-64G>T",
"hgvs_p": null,
"transcript": "ENST00000953176.1",
"protein_id": "ENSP00000623235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": null,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953176.1"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.942+1544G>T",
"hgvs_p": null,
"transcript": "ENST00000953177.1",
"protein_id": "ENSP00000623236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953177.1"
},
{
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.878-64G>T",
"hgvs_p": null,
"transcript": "ENST00000884267.1",
"protein_id": "ENSP00000554326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884267.1"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.685-1582G>T",
"hgvs_p": null,
"transcript": "ENST00000938617.1",
"protein_id": "ENSP00000608676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938617.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "c.684+21387G>T",
"hgvs_p": null,
"transcript": "ENST00000938618.1",
"protein_id": "ENSP00000608677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "n.*831G>T",
"hgvs_p": null,
"transcript": "ENST00000422497.5",
"protein_id": "ENSP00000393208.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422497.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"hgvs_c": "n.*831G>T",
"hgvs_p": null,
"transcript": "ENST00000422497.5",
"protein_id": "ENSP00000393208.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422497.5"
}
],
"gene_symbol": "ORC5",
"gene_hgnc_id": 8491,
"dbsnp": "rs141275662",
"frequency_reference_population": 0.00038472505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 618,
"gnomad_exomes_af": 0.000402981,
"gnomad_genomes_af": 0.000210277,
"gnomad_exomes_ac": 586,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09150052070617676,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.2453,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.776,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_002553.4",
"gene_symbol": "ORC5",
"hgnc_id": 8491,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.898G>T",
"hgvs_p": "p.Val300Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}