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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-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231461706&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NCL",
"hgnc_id": 7667,
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_005381.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0543,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03430098295211792,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 710,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2133,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005381.3",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322723.9",
"protein_coding": true,
"protein_id": "NP_005372.2",
"strand": false,
"transcript": "NM_005381.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 710,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2133,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000322723.9",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005381.3",
"protein_coding": true,
"protein_id": "ENSP00000318195.4",
"strand": false,
"transcript": "ENST00000322723.9",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 750,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2253,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896140.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566199.1",
"strand": false,
"transcript": "ENST00000896140.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 741,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 588,
"cds_end": null,
"cds_length": 2226,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933641.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603700.1",
"strand": false,
"transcript": "ENST00000933641.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 734,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 447,
"cds_end": null,
"cds_length": 2205,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000356936.6",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349410.6",
"strand": false,
"transcript": "ENST00000356936.6",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 732,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 588,
"cds_end": null,
"cds_length": 2199,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933640.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603699.1",
"strand": false,
"transcript": "ENST00000933640.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 588,
"cds_end": null,
"cds_length": 2160,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933637.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603696.1",
"strand": false,
"transcript": "ENST00000933637.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 717,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2154,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896143.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566202.1",
"strand": false,
"transcript": "ENST00000896143.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 709,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2130,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896142.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566201.1",
"strand": false,
"transcript": "ENST00000896142.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 708,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 588,
"cds_end": null,
"cds_length": 2127,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896141.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566200.1",
"strand": false,
"transcript": "ENST00000896141.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 708,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 588,
"cds_end": null,
"cds_length": 2127,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896145.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566204.1",
"strand": false,
"transcript": "ENST00000896145.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 704,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 612,
"cds_end": null,
"cds_length": 2115,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896138.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566197.1",
"strand": false,
"transcript": "ENST00000896138.1",
"transcript_support_level": null
},
{
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"aa_ref": "E",
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"biotype": "protein_coding",
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"cdna_start": 588,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 14,
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"feature": "ENST00000896139.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566198.1",
"strand": false,
"transcript": "ENST00000896139.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 583,
"cds_end": null,
"cds_length": 2088,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000678828.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503432.1",
"strand": false,
"transcript": "ENST00000678828.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_ref": "E",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 494,
"cds_end": null,
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"cds_start": 399,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000417652.6",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Glu133Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392747.2",
"strand": false,
"transcript": "ENST00000417652.6",
"transcript_support_level": 4
},
{
"aa_alt": "D",
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"aa_length": 694,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 537,
"cds_end": null,
"cds_length": 2085,
"cds_start": 399,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000436894.2",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Glu133Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401322.2",
"strand": false,
"transcript": "ENST00000436894.2",
"transcript_support_level": 4
},
{
"aa_alt": "D",
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"aa_length": 694,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 909,
"cds_end": null,
"cds_length": 2085,
"cds_start": 399,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000453992.6",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Glu133Asp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000413775.2",
"strand": false,
"transcript": "ENST00000453992.6",
"transcript_support_level": 4
},
{
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"aa_ref": "E",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 469,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
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"exon_rank_end": null,
"feature": "ENST00000454824.6",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Glu133Asp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000401620.2",
"strand": false,
"transcript": "ENST00000454824.6",
"transcript_support_level": 3
},
{
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"aa_ref": "E",
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"biotype": "protein_coding",
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"cdna_start": 584,
"cds_end": null,
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"cds_start": 399,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000679348.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Glu133Asp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504694.1",
"strand": false,
"transcript": "ENST00000679348.1",
"transcript_support_level": null
},
{
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"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 612,
"cds_end": null,
"cds_length": 2070,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000678246.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503707.1",
"strand": false,
"transcript": "ENST00000678246.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2070,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896144.1",
"gene_hgnc_id": 7667,
"gene_symbol": "NCL",
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Glu149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566203.1",
"strand": false,
"transcript": "ENST00000896144.1",
"transcript_support_level": null
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