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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: 2-231457245-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231457245&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 231457245,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000322723.9",
"consequences": [
{
"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": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1448-121G>A",
"hgvs_p": null,
"transcript": "NM_005381.3",
"protein_id": "NP_005372.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": "ENST00000322723.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1448-121G>A",
"hgvs_p": null,
"transcript": "ENST00000322723.9",
"protein_id": "ENSP00000318195.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": "NM_005381.3",
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.166G>A",
"hgvs_p": null,
"transcript": "ENST00000466274.1",
"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": 671,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.2010G>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.2654G>A",
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.3119G>A",
"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": 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": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1519+41G>A",
"hgvs_p": null,
"transcript": "ENST00000356936.6",
"protein_id": "ENSP00000349410.6",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": -4,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1403-121G>A",
"hgvs_p": null,
"transcript": "ENST00000678828.1",
"protein_id": "ENSP00000503432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1400-121G>A",
"hgvs_p": null,
"transcript": "ENST00000417652.6",
"protein_id": "ENSP00000392747.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1400-121G>A",
"hgvs_p": null,
"transcript": "ENST00000436894.2",
"protein_id": "ENSP00000401322.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1400-121G>A",
"hgvs_p": null,
"transcript": "ENST00000453992.6",
"protein_id": "ENSP00000413775.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2978,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1400-121G>A",
"hgvs_p": null,
"transcript": "ENST00000454824.6",
"protein_id": "ENSP00000401620.2",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 694,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"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": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1400-121G>A",
"hgvs_p": null,
"transcript": "ENST00000679348.1",
"protein_id": "ENSP00000504694.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1448-121G>A",
"hgvs_p": null,
"transcript": "ENST00000678246.1",
"protein_id": "ENSP00000503707.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
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"gene_symbol": "NCL",
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"hgvs_c": "c.1448-121G>A",
"hgvs_p": null,
"transcript": "ENST00000676690.1",
"protein_id": "ENSP00000504613.1",
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"aa_length": 672,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.1166-121G>A",
"hgvs_p": null,
"transcript": "ENST00000678364.1",
"protein_id": "ENSP00000504707.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "NCL",
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"hgvs_c": "n.2999-121G>A",
"hgvs_p": null,
"transcript": "ENST00000461347.5",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.1613-121G>A",
"hgvs_p": null,
"transcript": "ENST00000676514.1",
"protein_id": null,
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"biotype": null,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.1448-121G>A",
"hgvs_p": null,
"transcript": "ENST00000676913.1",
"protein_id": "ENSP00000503098.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "NCL",
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NCL",
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"hgvs_c": "n.1448-121G>A",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.1448-121G>A",
"hgvs_p": null,
"transcript": "ENST00000678405.1",
"protein_id": "ENSP00000503250.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.*509-121G>A",
"hgvs_p": null,
"transcript": "ENST00000678849.1",
"protein_id": "ENSP00000503057.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"cds_start": -4,
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}
],
"gene_symbol": "NCL",
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"dbsnp": "rs7598759",
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"hom_count_reference_population": 125039,
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"gnomad_exomes_af": 0.422653,
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"gnomad_exomes_ac": 505572,
"gnomad_genomes_ac": 69941,
"gnomad_exomes_homalt": 108736,
"gnomad_genomes_homalt": 16303,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.651,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000322723.9",
"gene_symbol": "NCL",
"hgnc_id": 7667,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1448-121G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}