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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: 16-81024737-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81024737&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CENPN",
"hgnc_id": 30873,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Thr219Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001100625.3",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000284512",
"hgnc_id": null,
"hgvs_c": "c.*3-132G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000640345.1",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CENPN-AS1",
"hgnc_id": 55106,
"hgvs_c": "n.239-132G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000561808.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 84,
"alphamissense_prediction": null,
"alphamissense_score": 0.083,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10678994655609131,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 339,
"aa_ref": "T",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3928,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1020,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001100624.3",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Thr219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000305850.10",
"protein_coding": true,
"protein_id": "NP_001094094.2",
"strand": true,
"transcript": "NM_001100624.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 339,
"aa_ref": "T",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3928,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1020,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000305850.10",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Thr219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001100624.3",
"protein_coding": true,
"protein_id": "ENSP00000305608.5",
"strand": true,
"transcript": "ENST00000305850.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 197,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": null,
"cds_end": null,
"cds_length": 594,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640345.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000284512",
"hgvs_c": "c.*3-132G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492798.1",
"strand": false,
"transcript": "ENST00000640345.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1062,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001100625.3",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Thr219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001094095.2",
"strand": true,
"transcript": "NM_001100625.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1062,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000393335.7",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Thr219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377007.3",
"strand": true,
"transcript": "ENST00000393335.7",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 319,
"aa_ref": "T",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 670,
"cds_end": null,
"cds_length": 960,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001270473.2",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Thr199Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257402.1",
"strand": true,
"transcript": "NM_001270473.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 319,
"aa_ref": "T",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1699,
"cdna_start": 677,
"cds_end": null,
"cds_length": 960,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000439957.7",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Thr199Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395235.3",
"strand": true,
"transcript": "ENST00000439957.7",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 305,
"aa_ref": "T",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3826,
"cdna_start": 628,
"cds_end": null,
"cds_length": 918,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001270474.2",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257403.1",
"strand": true,
"transcript": "NM_001270474.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 305,
"aa_ref": "T",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 971,
"cdna_start": 598,
"cds_end": null,
"cds_length": 918,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000428963.6",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393991.2",
"strand": true,
"transcript": "ENST00000428963.6",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 280,
"aa_ref": "T",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": 553,
"cds_end": null,
"cds_length": 843,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936235.1",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Thr160Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606294.1",
"strand": true,
"transcript": "ENST00000936235.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 339,
"aa_ref": "T",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1020,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006721236.5",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Thr219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721299.1",
"strand": true,
"transcript": "XM_006721236.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 305,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3994,
"cdna_start": 796,
"cds_end": null,
"cds_length": 918,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 10,
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"feature": "XM_047434366.1",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290322.1",
"strand": true,
"transcript": "XM_047434366.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958173.1",
"gene_hgnc_id": 30873,
"gene_symbol": "CENPN",
"hgvs_c": "c.633+2039C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628232.1",
"strand": true,
"transcript": "ENST00000958173.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 99,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 610,
"cdna_start": null,
"cds_end": null,
"cds_length": 300,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638192.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000284512",
"hgvs_c": "c.*3-132G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492056.1",
"strand": false,
"transcript": "ENST00000638192.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 789,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561808.1",
"gene_hgnc_id": 55106,
"gene_symbol": "CENPN-AS1",
"hgvs_c": "n.239-132G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000561808.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566390.5",
"gene_hgnc_id": 55106,
"gene_symbol": "CENPN-AS1",
"hgvs_c": "n.264-132G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000566390.5",
"transcript_support_level": 4
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000649061.1",
"gene_hgnc_id": 55106,
"gene_symbol": "CENPN-AS1",
"hgvs_c": "n.240-132G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000649061.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001752278.2",
"gene_hgnc_id": 55106,
"gene_symbol": "CENPN-AS1",
"hgvs_c": "n.283-132G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001752278.2",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 1646,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001752279.2",
"gene_hgnc_id": 55106,
"gene_symbol": "CENPN-AS1",
"hgvs_c": "n.291-132G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001752279.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 618,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007065130.1",
"gene_hgnc_id": 55106,
"gene_symbol": "CENPN-AS1",
"hgvs_c": "n.282-132G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007065130.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
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