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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: 16-574424-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=574424&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIGQ",
"hgnc_id": 14135,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_148920.4",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000282907",
"hgnc_id": null,
"hgvs_c": "n.512C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000409439.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 11055,
"alphamissense_prediction": null,
"alphamissense_score": 0.0719,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": " 77,Developmental and epileptic encephalopathy,Epilepsy,Inborn genetic diseases,PIGQ-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006665289402008057,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 581,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 488,
"cds_end": null,
"cds_length": 1746,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_004204.5",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321878.10",
"protein_coding": true,
"protein_id": "NP_004195.2",
"strand": true,
"transcript": "NM_004204.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 581,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 488,
"cds_end": null,
"cds_length": 1746,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000321878.10",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004204.5",
"protein_coding": true,
"protein_id": "ENSP00000326674.6",
"strand": true,
"transcript": "ENST00000321878.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 760,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 438,
"cds_end": null,
"cds_length": 2283,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000026218.9",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000026218.5",
"strand": true,
"transcript": "ENST00000026218.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 394,
"cds_end": null,
"cds_length": 900,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000470411.2",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439650.1",
"strand": true,
"transcript": "ENST00000470411.2",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 760,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 488,
"cds_end": null,
"cds_length": 2283,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_148920.4",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_683721.1",
"strand": true,
"transcript": "NM_148920.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 635,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1908,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854227.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524286.1",
"strand": true,
"transcript": "ENST00000854227.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1878,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854222.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524281.1",
"strand": true,
"transcript": "ENST00000854222.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 491,
"cds_end": null,
"cds_length": 1827,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854224.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524283.1",
"strand": true,
"transcript": "ENST00000854224.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1827,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000968575.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638634.1",
"strand": true,
"transcript": "ENST00000968575.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 581,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1746,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000409527.6",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386760.2",
"strand": true,
"transcript": "ENST00000409527.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 581,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 504,
"cds_end": null,
"cds_length": 1746,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854221.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524280.1",
"strand": true,
"transcript": "ENST00000854221.1",
"transcript_support_level": null
},
{
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"aa_length": 581,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 494,
"cds_end": null,
"cds_length": 1746,
"cds_start": 350,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000854223.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524282.1",
"strand": true,
"transcript": "ENST00000854223.1",
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},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 1517,
"cds_end": null,
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"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000854228.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524287.1",
"strand": true,
"transcript": "ENST00000854228.1",
"transcript_support_level": null
},
{
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"aa_length": 581,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 597,
"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000968576.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638635.1",
"strand": true,
"transcript": "ENST00000968576.1",
"transcript_support_level": null
},
{
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"aa_length": 581,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 560,
"cds_end": null,
"cds_length": 1746,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000968577.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638636.1",
"strand": true,
"transcript": "ENST00000968577.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 581,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1746,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000968578.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638637.1",
"strand": true,
"transcript": "ENST00000968578.1",
"transcript_support_level": null
},
{
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"aa_length": 572,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2926,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1719,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854226.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000524285.1",
"strand": true,
"transcript": "ENST00000854226.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 537,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": 488,
"cds_end": null,
"cds_length": 1614,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854225.1",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524284.1",
"strand": true,
"transcript": "ENST00000854225.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 396,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 480,
"cds_end": null,
"cds_length": 1191,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000422307.6",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413753.2",
"strand": true,
"transcript": "ENST00000422307.6",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": 508,
"cds_end": null,
"cds_length": 445,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000293874.2",
"gene_hgnc_id": 14135,
"gene_symbol": "PIGQ",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000293874.2",
"strand": true,
"transcript": "ENST00000293874.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 916,
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