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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: 9-94563388-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=94563388&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FBP2",
"hgnc_id": 3607,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Gly260Ala",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_003837.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PCAT7",
"hgnc_id": 48824,
"hgvs_c": "n.462-4002C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000452148.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 4,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9687,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9842883944511414,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 339,
"aa_ref": "G",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1020,
"cds_start": 779,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003837.4",
"gene_hgnc_id": 3607,
"gene_symbol": "FBP2",
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Gly260Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375337.4",
"protein_coding": true,
"protein_id": "NP_003828.2",
"strand": false,
"transcript": "NM_003837.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 339,
"aa_ref": "G",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1020,
"cds_start": 779,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000375337.4",
"gene_hgnc_id": 3607,
"gene_symbol": "FBP2",
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Gly260Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003837.4",
"protein_coding": true,
"protein_id": "ENSP00000364486.3",
"strand": false,
"transcript": "ENST00000375337.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3995,
"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": "ENST00000644721.3",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.448-4002C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NR_121567.3",
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000644721.3",
"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": 3995,
"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": "NR_121567.3",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.448-4002C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644721.3",
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_121567.3",
"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": 1412,
"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": "ENST00000452148.4",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.462-4002C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000452148.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647389.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.441+4236C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000647389.1",
"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": 1200,
"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": "ENST00000718017.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.434-4002C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000718017.1",
"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": 1539,
"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": "ENST00000718018.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.589-4002C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000718018.1",
"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": 1303,
"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": "ENST00000718019.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.552-4002C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000718019.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"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": "ENST00000718020.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.387-4002C>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000718020.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000718021.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.571-4002C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000718021.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000718022.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.349-4002C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000718022.1",
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},
{
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],
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"feature": "ENST00000718149.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.801+3064C>G",
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000718149.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000718150.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.716+3064C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"transcript": "ENST00000718150.1",
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},
{
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],
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"feature": "ENST00000718151.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.448-4002C>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000718151.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000718152.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.176-4002C>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000718152.1",
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},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000718153.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.275-4002C>G",
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"mane_plus": null,
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},
{
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],
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"feature": "ENST00000718154.1",
"gene_hgnc_id": 48824,
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"strand": true,
"transcript": "ENST00000718154.1",
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},
{
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000846118.1",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.119-4002C>G",
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"strand": true,
"transcript": "ENST00000846118.1",
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},
{
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"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_121566.3",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.533-4002C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_121566.3",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "pseudogene",
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"cdna_end": null,
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"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": "NR_121568.3",
"gene_hgnc_id": 48824,
"gene_symbol": "PCAT7",
"hgvs_c": "n.210-4002C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_121568.3",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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