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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: 11-64648789-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64648789&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64648789,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000704782.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Pro1076Pro",
"transcript": "NM_015080.4",
"protein_id": "NP_055895.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1712,
"cds_start": 3228,
"cds_end": null,
"cds_length": 5139,
"cdna_start": 3699,
"cdna_end": null,
"cdna_length": 6632,
"mane_select": "ENST00000265459.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Pro1076Pro",
"transcript": "ENST00000265459.11",
"protein_id": "ENSP00000265459.5",
"transcript_support_level": 5,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1712,
"cds_start": 3228,
"cds_end": null,
"cds_length": 5139,
"cdna_start": 3699,
"cdna_end": null,
"cdna_length": 6632,
"mane_select": "NM_015080.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3237A>G",
"hgvs_p": "p.Pro1079Pro",
"transcript": "ENST00000704782.1",
"protein_id": "ENSP00000516031.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1715,
"cds_start": 3237,
"cds_end": null,
"cds_length": 5148,
"cdna_start": 3449,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3108A>G",
"hgvs_p": "p.Pro1036Pro",
"transcript": "ENST00000377559.7",
"protein_id": "ENSP00000366782.3",
"transcript_support_level": 1,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1642,
"cds_start": 3108,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 3570,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3237A>G",
"hgvs_p": "p.Pro1079Pro",
"transcript": "ENST00000704781.1",
"protein_id": "ENSP00000516029.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1521,
"cds_start": 3237,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 3252,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3207A>G",
"hgvs_p": "p.Pro1069Pro",
"transcript": "ENST00000409571.6",
"protein_id": "ENSP00000386416.1",
"transcript_support_level": 5,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1705,
"cds_start": 3207,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 3629,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3108A>G",
"hgvs_p": "p.Pro1036Pro",
"transcript": "NM_138732.3",
"protein_id": "NP_620060.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1642,
"cds_start": 3108,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Pro1076Pro",
"transcript": "NM_001376262.1",
"protein_id": "NP_001363191.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 3699,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3207A>G",
"hgvs_p": "p.Pro1069Pro",
"transcript": "NM_001376263.1",
"protein_id": "NP_001363192.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1511,
"cds_start": 3207,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 3678,
"cdna_end": null,
"cdna_length": 6029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3207A>G",
"hgvs_p": "p.Pro1069Pro",
"transcript": "ENST00000688050.1",
"protein_id": "ENSP00000509497.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1511,
"cds_start": 3207,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 3207,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3204A>G",
"hgvs_p": "p.Pro1068Pro",
"transcript": "NM_001376266.1",
"protein_id": "NP_001363195.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1510,
"cds_start": 3204,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 3675,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3183A>G",
"hgvs_p": "p.Pro1061Pro",
"transcript": "NM_001376265.1",
"protein_id": "NP_001363194.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3183,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 3654,
"cdna_end": null,
"cdna_length": 6005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.3207A>G",
"hgvs_p": "p.Pro1069Pro",
"transcript": "NM_001376267.1",
"protein_id": "NP_001363196.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1481,
"cds_start": 3207,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 3678,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.2361A>G",
"hgvs_p": "p.Pro787Pro",
"transcript": "ENST00000693456.1",
"protein_id": "ENSP00000510245.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2361,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 2363,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.2361A>G",
"hgvs_p": "p.Pro787Pro",
"transcript": "ENST00000689935.1",
"protein_id": "ENSP00000508669.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 1199,
"cds_start": 2361,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2363,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.1014A>G",
"hgvs_p": "p.Pro338Pro",
"transcript": "ENST00000688454.1",
"protein_id": "ENSP00000510474.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 780,
"cds_start": 1014,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1588,
"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": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRXN2-AS1",
"gene_hgnc_id": 40416,
"hgvs_c": "n.180+2211T>C",
"hgvs_p": null,
"transcript": "ENST00000433606.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"dbsnp": "rs371180957",
"frequency_reference_population": 0.00007930214,
"hom_count_reference_population": 0,
"allele_count_reference_population": 128,
"gnomad_exomes_af": 0.0000807179,
"gnomad_genomes_af": 0.0000657039,
"gnomad_exomes_ac": 118,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.103,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000704782.1",
"gene_symbol": "NRXN2",
"hgnc_id": 8009,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3237A>G",
"hgvs_p": "p.Pro1079Pro"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000433606.1",
"gene_symbol": "NRXN2-AS1",
"hgnc_id": 40416,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.180+2211T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}