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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: 6-154221328-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=154221328&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 154221328,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001130700.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.321T>G",
"hgvs_p": "p.His107Gln",
"transcript": "NM_001130700.2",
"protein_id": "NP_001124172.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 438,
"cds_start": 321,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": "ENST00000367220.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.321T>G",
"hgvs_p": "p.His107Gln",
"transcript": "ENST00000367220.9",
"protein_id": "ENSP00000356189.4",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 438,
"cds_start": 321,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": "NM_001130700.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288520",
"gene_hgnc_id": null,
"hgvs_c": "c.1704T>G",
"hgvs_p": "p.His568Gln",
"transcript": "ENST00000673182.1",
"protein_id": "ENSP00000499846.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 899,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.321T>G",
"hgvs_p": "p.His107Gln",
"transcript": "ENST00000422970.6",
"protein_id": "ENSP00000394751.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 438,
"cds_start": 321,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.His106Gln",
"transcript": "ENST00000265198.8",
"protein_id": "ENSP00000265198.4",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 437,
"cds_start": 318,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 6689,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1165-25365A>C",
"hgvs_p": null,
"transcript": "ENST00000337049.8",
"protein_id": "ENSP00000338381.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.321T>G",
"hgvs_p": "p.His107Gln",
"transcript": "NM_001130699.2",
"protein_id": "NP_001124171.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 438,
"cds_start": 321,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 6845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.321T>G",
"hgvs_p": "p.His107Gln",
"transcript": "NM_001394799.1",
"protein_id": "NP_001381728.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 438,
"cds_start": 321,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.321T>G",
"hgvs_p": "p.His107Gln",
"transcript": "NM_001394800.1",
"protein_id": "NP_001381729.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 438,
"cds_start": 321,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 6784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.321T>G",
"hgvs_p": "p.His107Gln",
"transcript": "NM_001394801.1",
"protein_id": "NP_001381730.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 438,
"cds_start": 321,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 6858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.His106Gln",
"transcript": "NM_001394802.1",
"protein_id": "NP_001381731.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 437,
"cds_start": 318,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 6781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.His106Gln",
"transcript": "NM_015553.3",
"protein_id": "NP_056368.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 437,
"cds_start": 318,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.234T>G",
"hgvs_p": "p.His78Gln",
"transcript": "ENST00000519344.5",
"protein_id": "ENSP00000430287.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 409,
"cds_start": 234,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.234T>G",
"hgvs_p": "p.His78Gln",
"transcript": "ENST00000517438.5",
"protein_id": "ENSP00000431092.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 156,
"cds_start": 234,
"cds_end": null,
"cds_length": 473,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.234T>G",
"hgvs_p": "p.His78Gln",
"transcript": "ENST00000519405.5",
"protein_id": "ENSP00000428767.1",
"transcript_support_level": 4,
"aa_start": 78,
"aa_end": null,
"aa_length": 127,
"cds_start": 234,
"cds_end": null,
"cds_length": 385,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"hgvs_c": "c.234T>G",
"hgvs_p": "p.His78Gln",
"transcript": "ENST00000519190.1",
"protein_id": "ENSP00000429972.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 107,
"cds_start": 234,
"cds_end": null,
"cds_length": 325,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 568,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1165-25365A>C",
"hgvs_p": null,
"transcript": "NM_001008503.3",
"protein_id": "NP_001008503.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "n.*251-25365A>C",
"hgvs_p": null,
"transcript": "ENST00000524150.2",
"protein_id": "ENSP00000430575.1",
"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": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IPCEF1",
"gene_hgnc_id": 21204,
"dbsnp": "rs756783893",
"frequency_reference_population": 0.000004338438,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000136867,
"gnomad_genomes_af": 0.0000328485,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3413965702056885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27399998903274536,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.168,
"revel_prediction": "Benign",
"alphamissense_score": 0.6501,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.182,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000221179302822722,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001130700.2",
"gene_symbol": "IPCEF1",
"hgnc_id": 21204,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.321T>G",
"hgvs_p": "p.His107Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000673182.1",
"gene_symbol": "ENSG00000288520",
"hgnc_id": null,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1704T>G",
"hgvs_p": "p.His568Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001008503.3",
"gene_symbol": "OPRM1",
"hgnc_id": 8156,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1165-25365A>C",
"hgvs_p": null
}
],
"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
}