← Back to variant description
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: 11-64607816-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64607816&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64607816,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000704782.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4519C>G",
"hgvs_p": "p.Pro1507Ala",
"transcript": "NM_015080.4",
"protein_id": "NP_055895.1",
"transcript_support_level": null,
"aa_start": 1507,
"aa_end": null,
"aa_length": 1712,
"cds_start": 4519,
"cds_end": null,
"cds_length": 5139,
"cdna_start": 4990,
"cdna_end": null,
"cdna_length": 6632,
"mane_select": "ENST00000265459.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4519C>G",
"hgvs_p": "p.Pro1507Ala",
"transcript": "ENST00000265459.11",
"protein_id": "ENSP00000265459.5",
"transcript_support_level": 5,
"aa_start": 1507,
"aa_end": null,
"aa_length": 1712,
"cds_start": 4519,
"cds_end": null,
"cds_length": 5139,
"cdna_start": 4990,
"cdna_end": null,
"cdna_length": 6632,
"mane_select": "NM_015080.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4528C>G",
"hgvs_p": "p.Pro1510Ala",
"transcript": "ENST00000704782.1",
"protein_id": "ENSP00000516031.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1715,
"cds_start": 4528,
"cds_end": null,
"cds_length": 5148,
"cdna_start": 4740,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4309C>G",
"hgvs_p": "p.Pro1437Ala",
"transcript": "ENST00000377559.7",
"protein_id": "ENSP00000366782.3",
"transcript_support_level": 1,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1642,
"cds_start": 4309,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 4771,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4262-316C>G",
"hgvs_p": null,
"transcript": "ENST00000704781.1",
"protein_id": "ENSP00000516029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1521,
"cds_start": -4,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4498C>G",
"hgvs_p": "p.Pro1500Ala",
"transcript": "ENST00000409571.6",
"protein_id": "ENSP00000386416.1",
"transcript_support_level": 5,
"aa_start": 1500,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4498,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 4920,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4309C>G",
"hgvs_p": "p.Pro1437Ala",
"transcript": "NM_138732.3",
"protein_id": "NP_620060.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1642,
"cds_start": 4309,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 4780,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.1381C>G",
"hgvs_p": "p.Pro461Ala",
"transcript": "NM_138734.3",
"protein_id": "NP_620063.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 666,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.1381C>G",
"hgvs_p": "p.Pro461Ala",
"transcript": "ENST00000301894.6",
"protein_id": "ENSP00000301894.2",
"transcript_support_level": 5,
"aa_start": 461,
"aa_end": null,
"aa_length": 666,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "n.1590C>G",
"hgvs_p": null,
"transcript": "ENST00000464307.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4253-316C>G",
"hgvs_p": null,
"transcript": "NM_001376262.1",
"protein_id": "NP_001363191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1518,
"cds_start": -4,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4232-316C>G",
"hgvs_p": null,
"transcript": "NM_001376263.1",
"protein_id": "NP_001363192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": -4,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4232-316C>G",
"hgvs_p": null,
"transcript": "ENST00000688050.1",
"protein_id": "ENSP00000509497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": -4,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4229-316C>G",
"hgvs_p": null,
"transcript": "NM_001376266.1",
"protein_id": "NP_001363195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1510,
"cds_start": -4,
"cds_end": null,
"cds_length": 4533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4208-316C>G",
"hgvs_p": null,
"transcript": "NM_001376265.1",
"protein_id": "NP_001363194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": -4,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.4142-316C>G",
"hgvs_p": null,
"transcript": "NM_001376267.1",
"protein_id": "NP_001363196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1481,
"cds_start": -4,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3386-316C>G",
"hgvs_p": null,
"transcript": "ENST00000693456.1",
"protein_id": "ENSP00000510245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1229,
"cds_start": -4,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3296-316C>G",
"hgvs_p": null,
"transcript": "ENST00000689935.1",
"protein_id": "ENSP00000508669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
"cds_start": -4,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.2039-316C>G",
"hgvs_p": null,
"transcript": "ENST00000688454.1",
"protein_id": "ENSP00000510474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.878-316C>G",
"hgvs_p": null,
"transcript": "NM_001400681.1",
"protein_id": "NP_001387610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.788-316C>G",
"hgvs_p": null,
"transcript": "NM_001400682.1",
"protein_id": "NP_001387611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"dbsnp": "rs749398433",
"frequency_reference_population": 0.0000093644885,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000096571,
"gnomad_genomes_af": 0.00000657523,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1662343144416809,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.3104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.009,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000704782.1",
"gene_symbol": "NRXN2",
"hgnc_id": 8009,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4528C>G",
"hgvs_p": "p.Pro1510Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}