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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: 19-48601276-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48601276&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48601276,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017708.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "NM_017708.4",
"protein_id": "NP_060178.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2797,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": "ENST00000263266.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017708.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000263266.4",
"protein_id": "ENSP00000263266.2",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2797,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": "NM_017708.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263266.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000876133.1",
"protein_id": "ENSP00000546192.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876133.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000876134.1",
"protein_id": "ENSP00000546193.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2907,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876134.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000876135.1",
"protein_id": "ENSP00000546194.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876135.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000876136.1",
"protein_id": "ENSP00000546195.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876136.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000876137.1",
"protein_id": "ENSP00000546196.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876137.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000876138.1",
"protein_id": "ENSP00000546197.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876138.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000958244.1",
"protein_id": "ENSP00000628303.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2687,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958244.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000958245.1",
"protein_id": "ENSP00000628304.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958245.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "ENST00000958246.1",
"protein_id": "ENSP00000628305.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958246.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "ENST00000876139.1",
"protein_id": "ENSP00000546198.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 453,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876139.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1102C>G",
"hgvs_p": "p.Arg368Gly",
"transcript": "ENST00000958243.1",
"protein_id": "ENSP00000628302.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 422,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 2663,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958243.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "XM_024451561.2",
"protein_id": "XP_024307329.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451561.2"
}
],
"gene_symbol": "FAM83E",
"gene_hgnc_id": 25972,
"dbsnp": "rs537095726",
"frequency_reference_population": 0.00019892781,
"hom_count_reference_population": 1,
"allele_count_reference_population": 316,
"gnomad_exomes_af": 0.00020192,
"gnomad_genomes_af": 0.000170709,
"gnomad_exomes_ac": 290,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06520435214042664,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0772,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.239,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017708.4",
"gene_symbol": "FAM83E",
"hgnc_id": 25972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Arg424Gly"
}
],
"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
}