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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: 11-64652130-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64652130&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NRXN2",
"hgnc_id": 8009,
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ala814Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_015080.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NRXN2-AS1",
"hgnc_id": 40416,
"hgvs_c": "n.180+5552G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000433606.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 108,
"alphamissense_prediction": null,
"alphamissense_score": 0.1894,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "11",
"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": 0.12007245421409607,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6632,
"cdna_start": 2912,
"cds_end": null,
"cds_length": 5139,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_015080.4",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ala814Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265459.11",
"protein_coding": true,
"protein_id": "NP_055895.1",
"strand": false,
"transcript": "NM_015080.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6632,
"cdna_start": 2912,
"cds_end": null,
"cds_length": 5139,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000265459.11",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ala814Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015080.4",
"protein_coding": true,
"protein_id": "ENSP00000265459.5",
"strand": false,
"transcript": "ENST00000265459.11",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1715,
"aa_ref": "A",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6382,
"cdna_start": 2662,
"cds_end": null,
"cds_length": 5148,
"cds_start": 2450,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000704782.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2450C>T",
"hgvs_p": "p.Ala817Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516031.1",
"strand": false,
"transcript": "ENST00000704782.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1642,
"aa_ref": "A",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6413,
"cdna_start": 2783,
"cds_end": null,
"cds_length": 4929,
"cds_start": 2321,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000377559.7",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2321C>T",
"hgvs_p": "p.Ala774Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366782.3",
"strand": false,
"transcript": "ENST00000377559.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1521,
"aa_ref": "A",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 4566,
"cds_start": 2450,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000704781.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2450C>T",
"hgvs_p": "p.Ala817Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516029.1",
"strand": false,
"transcript": "ENST00000704781.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1705,
"aa_ref": "A",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6559,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 5118,
"cds_start": 2420,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000409571.6",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2420C>T",
"hgvs_p": "p.Ala807Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386416.1",
"strand": false,
"transcript": "ENST00000409571.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1642,
"aa_ref": "A",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6422,
"cdna_start": 2792,
"cds_end": null,
"cds_length": 4929,
"cds_start": 2321,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_138732.3",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2321C>T",
"hgvs_p": "p.Ala774Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620060.1",
"strand": false,
"transcript": "NM_138732.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6050,
"cdna_start": 2912,
"cds_end": null,
"cds_length": 4557,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001376262.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ala814Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363191.1",
"strand": false,
"transcript": "NM_001376262.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "A",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6029,
"cdna_start": 2891,
"cds_end": null,
"cds_length": 4536,
"cds_start": 2420,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001376263.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2420C>T",
"hgvs_p": "p.Ala807Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363192.1",
"strand": false,
"transcript": "NM_001376263.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "A",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 4536,
"cds_start": 2420,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000688050.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2420C>T",
"hgvs_p": "p.Ala807Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509497.1",
"strand": false,
"transcript": "ENST00000688050.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1510,
"aa_ref": "A",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6026,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 4533,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001376266.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2417C>T",
"hgvs_p": "p.Ala806Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363195.1",
"strand": false,
"transcript": "NM_001376266.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "A",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6005,
"cdna_start": 2867,
"cds_end": null,
"cds_length": 4512,
"cds_start": 2396,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001376265.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2396C>T",
"hgvs_p": "p.Ala799Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363194.1",
"strand": false,
"transcript": "NM_001376265.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1481,
"aa_ref": "A",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5939,
"cdna_start": 2891,
"cds_end": null,
"cds_length": 4446,
"cds_start": 2420,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001376267.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.2420C>T",
"hgvs_p": "p.Ala807Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363196.1",
"strand": false,
"transcript": "NM_001376267.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "A",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 3690,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000693456.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.1574C>T",
"hgvs_p": "p.Ala525Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510245.1",
"strand": false,
"transcript": "ENST00000693456.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "A",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 3600,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000689935.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.1574C>T",
"hgvs_p": "p.Ala525Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508669.1",
"strand": false,
"transcript": "ENST00000689935.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 780,
"aa_ref": "A",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 801,
"cds_end": null,
"cds_length": 2343,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000688454.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ala76Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510474.1",
"strand": false,
"transcript": "ENST00000688454.1",
"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": 538,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000486057.1",
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"hgvs_c": "n.85C>T",
"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": "ENST00000486057.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 469,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000433606.1",
"gene_hgnc_id": 40416,
"gene_symbol": "NRXN2-AS1",
"hgvs_c": "n.180+5552G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000433606.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200231532",
"effect": "missense_variant",
"frequency_reference_population": 0.0000669642,
"gene_hgnc_id": 8009,
"gene_symbol": "NRXN2",
"gnomad_exomes_ac": 53,
"gnomad_exomes_af": 0.0000362838,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 55,
"gnomad_genomes_af": 0.000361614,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.715,
"pos": 64652130,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.416,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015080.4"
}
]
}