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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: 5-132209170-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132209170&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "P4HA2",
"hgnc_id": 8547,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_004199.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.8696,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "5",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal dominant,Myopia 25",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7677953243255615,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001365677.2",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000379104.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352606.1",
"strand": false,
"transcript": "NM_001365677.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000379104.7",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001365677.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368398.2",
"strand": false,
"transcript": "ENST00000379104.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 533,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4547,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1602,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001017974.2",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360568.8",
"protein_coding": true,
"protein_id": "NP_001017974.1",
"strand": false,
"transcript": "NM_001017974.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 533,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4547,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1602,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000360568.8",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001017974.2",
"protein_coding": true,
"protein_id": "ENSP00000353772.3",
"strand": false,
"transcript": "ENST00000360568.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000166534.8",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000166534.4",
"strand": false,
"transcript": "ENST00000166534.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4689,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001142599.2",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136071.1",
"strand": false,
"transcript": "NM_001142599.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004199.3",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004190.1",
"strand": false,
"transcript": "NM_004199.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000401867.5",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384999.1",
"strand": false,
"transcript": "ENST00000401867.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889327.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559386.1",
"strand": false,
"transcript": "ENST00000889327.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889328.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559387.1",
"strand": false,
"transcript": "ENST00000889328.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3377,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889329.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559388.1",
"strand": false,
"transcript": "ENST00000889329.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3220,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889331.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559390.1",
"strand": false,
"transcript": "ENST00000889331.1",
"transcript_support_level": null
},
{
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"aa_length": 535,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889336.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559395.1",
"strand": false,
"transcript": "ENST00000889336.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000889339.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559398.1",
"strand": false,
"transcript": "ENST00000889339.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 535,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000889342.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559401.1",
"strand": false,
"transcript": "ENST00000889342.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889349.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559408.1",
"strand": false,
"transcript": "ENST00000889349.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889350.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559409.1",
"strand": false,
"transcript": "ENST00000889350.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 535,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3074,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000889353.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559412.1",
"strand": false,
"transcript": "ENST00000889353.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000889355.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559414.1",
"strand": false,
"transcript": "ENST00000889355.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2115,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944793.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614852.1",
"strand": false,
"transcript": "ENST00000944793.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 535,
"aa_ref": "E",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1608,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944795.1",
"gene_hgnc_id": 8547,
"gene_symbol": "P4HA2",
"hgvs_c": "c.871G>A",
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