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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: 2-136115634-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=136115634&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CXCR4",
"hgnc_id": 2561,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_001348056.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_score": -15,
"allele_count_reference_population": 702,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": " and myelokathexis, hypogammaglobulinemia, infections,Warts,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03099999949336052,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 352,
"aa_ref": "A",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1059,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_003467.3",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.294C>T",
"hgvs_p": "p.Ala98Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000241393.4",
"protein_coding": true,
"protein_id": "NP_003458.1",
"strand": false,
"transcript": "NM_003467.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 352,
"aa_ref": "A",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1059,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000241393.4",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.294C>T",
"hgvs_p": "p.Ala98Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003467.3",
"protein_coding": true,
"protein_id": "ENSP00000241393.3",
"strand": false,
"transcript": "ENST00000241393.4",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 337,
"aa_ref": "A",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": 488,
"cds_end": null,
"cds_length": 1014,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000466288.1",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512430.1",
"strand": false,
"transcript": "ENST00000466288.1",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 423,
"aa_ref": "A",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1272,
"cds_start": 507,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348056.2",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334985.1",
"strand": false,
"transcript": "NM_001348056.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 385,
"aa_ref": "A",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 482,
"cds_end": null,
"cds_length": 1158,
"cds_start": 393,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348059.2",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.393C>T",
"hgvs_p": "p.Ala131Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334988.1",
"strand": false,
"transcript": "NM_001348059.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 356,
"aa_ref": "A",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 602,
"cds_end": null,
"cds_length": 1071,
"cds_start": 306,
"consequences": [
"synonymous_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001008540.2",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.306C>T",
"hgvs_p": "p.Ala102Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008540.1",
"strand": false,
"transcript": "NM_001008540.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 356,
"aa_ref": "A",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1071,
"cds_start": 306,
"consequences": [
"synonymous_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000409817.1",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.306C>T",
"hgvs_p": "p.Ala102Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386884.1",
"strand": false,
"transcript": "ENST00000409817.1",
"transcript_support_level": 6
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 348,
"aa_ref": "A",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1047,
"cds_start": 282,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696136.1",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.282C>T",
"hgvs_p": "p.Ala94Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512428.1",
"strand": false,
"transcript": "ENST00000696136.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 348,
"aa_ref": "A",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1047,
"cds_start": 282,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696228.1",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.282C>T",
"hgvs_p": "p.Ala94Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512494.1",
"strand": false,
"transcript": "ENST00000696228.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 337,
"aa_ref": "A",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1014,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001348060.2",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334989.1",
"strand": false,
"transcript": "NM_001348060.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 337,
"aa_ref": "A",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1014,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696137.1",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512429.1",
"strand": false,
"transcript": "ENST00000696137.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 337,
"aa_ref": "A",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 381,
"cds_end": null,
"cds_length": 1014,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696152.1",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512443.1",
"strand": false,
"transcript": "ENST00000696152.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1311,
"cds_start": 546,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047445802.1",
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"hgvs_c": "c.546C>T",
"hgvs_p": "p.Ala182Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301758.1",
"strand": false,
"transcript": "XM_047445802.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs142289207",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00043493346,
"gene_hgnc_id": 2561,
"gene_symbol": "CXCR4",
"gnomad_exomes_ac": 673,
"gnomad_exomes_af": 0.000460364,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 29,
"gnomad_genomes_af": 0.000190599,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Warts, hypogammaglobulinemia, infections, and myelokathexis|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.013,
"pos": 136115634,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.031,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001348056.2"
}
]
}