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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: 18-37270840-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=37270840&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CELF4",
"hgnc_id": 14015,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001353740.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Moderate,BS2",
"acmg_score": -7,
"allele_count_reference_population": 63,
"alphamissense_prediction": null,
"alphamissense_score": 0.0856,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "18",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2978675365447998,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 486,
"aa_ref": "G",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_020180.4",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000420428.7",
"protein_coding": true,
"protein_id": "NP_064565.1",
"strand": false,
"transcript": "NM_020180.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 486,
"aa_ref": "G",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000420428.7",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020180.4",
"protein_coding": true,
"protein_id": "ENSP00000410584.2",
"strand": false,
"transcript": "ENST00000420428.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 486,
"aa_ref": "G",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1461,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000591282.5",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464794.1",
"strand": false,
"transcript": "ENST00000591282.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 485,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000603232.6",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Gly342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474788.2",
"strand": false,
"transcript": "ENST00000603232.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 484,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000361795.9",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355089.4",
"strand": false,
"transcript": "ENST00000361795.9",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 484,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3757,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000591287.5",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Gly342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464917.1",
"strand": false,
"transcript": "ENST00000591287.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "G",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3542,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1347,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000334919.9",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335631.4",
"strand": false,
"transcript": "ENST00000334919.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 675,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000591421.5",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "n.221G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000591421.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353740.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340669.1",
"strand": false,
"transcript": "NM_001353740.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353749.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Gly342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340678.1",
"strand": false,
"transcript": "NM_001353749.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "G",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3899,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353734.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340663.1",
"strand": false,
"transcript": "NM_001353734.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "G",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353731.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340660.1",
"strand": false,
"transcript": "NM_001353731.2",
"transcript_support_level": null
},
{
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"aa_length": 535,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353746.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Gly342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340675.1",
"strand": false,
"transcript": "NM_001353746.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "G",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1605,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353735.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340664.1",
"strand": false,
"transcript": "NM_001353735.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 531,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3942,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 1596,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353733.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Gly331Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340662.1",
"strand": false,
"transcript": "NM_001353733.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 526,
"aa_ref": "G",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3869,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1581,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353703.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340632.1",
"strand": false,
"transcript": "NM_001353703.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1578,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353726.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340655.1",
"strand": false,
"transcript": "NM_001353726.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 525,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1151,
"cds_end": null,
"cds_length": 1578,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353741.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340670.1",
"strand": false,
"transcript": "NM_001353741.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 524,
"aa_ref": "G",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1575,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353728.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340657.1",
"strand": false,
"transcript": "NM_001353728.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 523,
"aa_ref": "G",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3860,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 1572,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353739.2",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Gly331Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340668.1",
"strand": false,
"transcript": "NM_001353739.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 505,
"aa_ref": "G",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000899364.1",
"gene_hgnc_id": 14015,
"gene_symbol": "CELF4",
"hgvs_c": "c.1027G>A",
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}