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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: 13-113200443-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113200443&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PCID2",
"hgnc_id": 25653,
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001320656.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8221,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "13",
"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": 0.23889395594596863,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 399,
"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1200,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001127202.4",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337344.9",
"protein_coding": true,
"protein_id": "NP_001120674.1",
"strand": false,
"transcript": "NM_001127202.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 399,
"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1200,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000337344.9",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127202.4",
"protein_coding": true,
"protein_id": "ENSP00000337405.4",
"strand": false,
"transcript": "ENST00000337344.9",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 399,
"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 142,
"cds_end": null,
"cds_length": 1200,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000375477.5",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364626.1",
"strand": false,
"transcript": "ENST00000375477.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 399,
"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 191,
"cds_end": null,
"cds_length": 1200,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000375479.6",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364628.2",
"strand": false,
"transcript": "ENST00000375479.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1194,
"cds_start": 104,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000375457.2",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.104C>T",
"hgvs_p": "p.Ala35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364606.2",
"strand": false,
"transcript": "ENST00000375457.2",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 157,
"cds_end": null,
"cds_length": 1194,
"cds_start": 104,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000375459.5",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.104C>T",
"hgvs_p": "p.Ala35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364608.1",
"strand": false,
"transcript": "ENST00000375459.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 453,
"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1362,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001320656.2",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307585.1",
"strand": false,
"transcript": "NM_001320656.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 453,
"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1362,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000246505.9",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000246505.5",
"strand": false,
"transcript": "ENST00000246505.9",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 453,
"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 191,
"cds_end": null,
"cds_length": 1362,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000622406.4",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479494.1",
"strand": false,
"transcript": "ENST00000622406.4",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 453,
"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 166,
"cds_end": null,
"cds_length": 1362,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000925339.1",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595398.1",
"strand": false,
"transcript": "ENST00000925339.1",
"transcript_support_level": null
},
{
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"aa_length": 432,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1299,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001320657.2",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307586.1",
"strand": false,
"transcript": "NM_001320657.2",
"transcript_support_level": null
},
{
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"aa_length": 430,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1293,
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"consequences": [
"missense_variant"
],
"exon_count": 14,
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"exon_rank_end": null,
"feature": "NM_001320660.2",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.104C>T",
"hgvs_p": "p.Ala35Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307589.1",
"strand": false,
"transcript": "NM_001320660.2",
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},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"feature": "NM_001320659.2",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307588.1",
"strand": false,
"transcript": "NM_001320659.2",
"transcript_support_level": null
},
{
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"aa_length": 399,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1200,
"cds_start": 110,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001127203.4",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120675.1",
"strand": false,
"transcript": "NM_001127203.4",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"consequences": [
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],
"exon_count": 15,
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"feature": "NM_018386.5",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060856.2",
"strand": false,
"transcript": "NM_018386.5",
"transcript_support_level": null
},
{
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"aa_length": 397,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1194,
"cds_start": 104,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001258213.3",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.104C>T",
"hgvs_p": "p.Ala35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245142.1",
"strand": false,
"transcript": "NM_001258213.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 397,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1194,
"cds_start": 104,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001320655.2",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.104C>T",
"hgvs_p": "p.Ala35Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307584.1",
"strand": false,
"transcript": "NM_001320655.2",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": 104,
"consequences": [
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],
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"feature": "NM_001353092.2",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.104C>T",
"hgvs_p": "p.Ala35Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001340021.1",
"strand": false,
"transcript": "NM_001353092.2",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000952597.1",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622656.1",
"strand": false,
"transcript": "ENST00000952597.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": 128,
"cds_end": null,
"cds_length": 1089,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000952599.1",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622658.1",
"strand": false,
"transcript": "ENST00000952599.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 339,
"aa_ref": "A",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1020,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000952596.1",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ala37Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622655.1",
"strand": false,
"transcript": "ENST00000952596.1",
"transcript_support_level": null
},
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