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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: 2-231461706-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231461706&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 231461706,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000322723.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "NM_005381.3",
"protein_id": "NP_005372.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 710,
"cds_start": 447,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": "ENST00000322723.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000322723.9",
"protein_id": "ENSP00000318195.4",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 710,
"cds_start": 447,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": "NM_005381.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000356936.6",
"protein_id": "ENSP00000349410.6",
"transcript_support_level": 3,
"aa_start": 149,
"aa_end": null,
"aa_length": 734,
"cds_start": 447,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000678828.1",
"protein_id": "ENSP00000503432.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 695,
"cds_start": 447,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000417652.6",
"protein_id": "ENSP00000392747.2",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000436894.2",
"protein_id": "ENSP00000401322.2",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000453992.6",
"protein_id": "ENSP00000413775.2",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000454824.6",
"protein_id": "ENSP00000401620.2",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000679348.1",
"protein_id": "ENSP00000504694.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000678246.1",
"protein_id": "ENSP00000503707.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 689,
"cds_start": 447,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000676690.1",
"protein_id": "ENSP00000504613.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 672,
"cds_start": 447,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000678364.1",
"protein_id": "ENSP00000504707.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 616,
"cds_start": 447,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 2361,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.1387G>T",
"hgvs_p": null,
"transcript": "ENST00000461347.5",
"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": 3967,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.612G>T",
"hgvs_p": null,
"transcript": "ENST00000676514.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3235,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.612G>T",
"hgvs_p": null,
"transcript": "ENST00000676798.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3389,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"transcript": "ENST00000676913.1",
"protein_id": "ENSP00000503098.1",
"transcript_support_level": null,
"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": 2720,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.645G>T",
"hgvs_p": null,
"transcript": "ENST00000677786.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4129,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"transcript": "ENST00000678131.1",
"protein_id": "ENSP00000504385.1",
"transcript_support_level": null,
"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": 2593,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"transcript": "ENST00000678405.1",
"protein_id": "ENSP00000503250.1",
"transcript_support_level": null,
"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": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.645G>T",
"hgvs_p": null,
"transcript": "ENST00000678729.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4237,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"transcript": "ENST00000678849.1",
"protein_id": "ENSP00000503057.1",
"transcript_support_level": null,
"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": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"dbsnp": "rs1131171",
"frequency_reference_population": 0.0000012393201,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84105e-7,
"gnomad_genomes_af": 0.00000657791,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.031604886054992676,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.0543,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.38,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000322723.9",
"gene_symbol": "NCL",
"hgnc_id": 7667,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}