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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: 19-3382231-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3382231&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3382231,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001245002.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "NM_001245002.2",
"protein_id": "NP_001231931.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 508,
"cds_start": 550,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000443272.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001245002.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000443272.3",
"protein_id": "ENSP00000396843.2",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 508,
"cds_start": 550,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001245002.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443272.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Val175Leu",
"transcript": "ENST00000589123.6",
"protein_id": "ENSP00000465655.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 499,
"cds_start": 523,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589123.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000341919.8",
"protein_id": "ENSP00000342194.2",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 428,
"cds_start": 550,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341919.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.616G>C",
"hgvs_p": "p.Val206Leu",
"transcript": "ENST00000641145.1",
"protein_id": "ENSP00000492983.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 530,
"cds_start": 616,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641145.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000904731.1",
"protein_id": "ENSP00000574790.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 507,
"cds_start": 550,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904731.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000904729.1",
"protein_id": "ENSP00000574788.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 506,
"cds_start": 550,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904729.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Val175Leu",
"transcript": "NM_205843.3",
"protein_id": "NP_995315.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 499,
"cds_start": 523,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205843.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000904730.1",
"protein_id": "ENSP00000574789.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 484,
"cds_start": 550,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904730.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000959767.1",
"protein_id": "ENSP00000629826.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 474,
"cds_start": 550,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959767.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "NM_001245004.2",
"protein_id": "NP_001231933.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 439,
"cds_start": 550,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001245004.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000590282.5",
"protein_id": "ENSP00000466647.1",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 439,
"cds_start": 550,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590282.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Val175Leu",
"transcript": "NM_001245005.2",
"protein_id": "NP_001231934.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 430,
"cds_start": 523,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001245005.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Val175Leu",
"transcript": "ENST00000395111.7",
"protein_id": "ENSP00000378543.2",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 430,
"cds_start": 523,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395111.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "NM_005597.4",
"protein_id": "NP_005588.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 428,
"cds_start": 550,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005597.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000959766.1",
"protein_id": "ENSP00000629825.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 427,
"cds_start": 550,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959766.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Val175Leu",
"transcript": "ENST00000586919.5",
"protein_id": "ENSP00000465177.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 406,
"cds_start": 523,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586919.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000904732.1",
"protein_id": "ENSP00000574791.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 404,
"cds_start": 550,
"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": "ENST00000904732.1"
}
],
"gene_symbol": "NFIC",
"gene_hgnc_id": 7786,
"dbsnp": "rs201510675",
"frequency_reference_population": 0.00017793305,
"hom_count_reference_population": 0,
"allele_count_reference_population": 285,
"gnomad_exomes_af": 0.000163508,
"gnomad_genomes_af": 0.000315267,
"gnomad_exomes_ac": 237,
"gnomad_genomes_ac": 48,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.018574386835098267,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.2955,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.179,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001245002.2",
"gene_symbol": "NFIC",
"hgnc_id": 7786,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu"
}
],
"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
}