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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: 11-64685799-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64685799&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64685799,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000704782.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "NM_015080.4",
"protein_id": "NP_055895.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1712,
"cds_start": 999,
"cds_end": null,
"cds_length": 5139,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 6632,
"mane_select": "ENST00000265459.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "ENST00000265459.11",
"protein_id": "ENSP00000265459.5",
"transcript_support_level": 5,
"aa_start": 333,
"aa_end": null,
"aa_length": 1712,
"cds_start": 999,
"cds_end": null,
"cds_length": 5139,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 6632,
"mane_select": "NM_015080.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "ENST00000704782.1",
"protein_id": "ENSP00000516031.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1715,
"cds_start": 999,
"cds_end": null,
"cds_length": 5148,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Ser309Ser",
"transcript": "ENST00000377559.7",
"protein_id": "ENSP00000366782.3",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 1642,
"cds_start": 927,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "ENST00000704781.1",
"protein_id": "ENSP00000516029.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1521,
"cds_start": 999,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "ENST00000409571.6",
"protein_id": "ENSP00000386416.1",
"transcript_support_level": 5,
"aa_start": 333,
"aa_end": null,
"aa_length": 1705,
"cds_start": 999,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Ser309Ser",
"transcript": "NM_138732.3",
"protein_id": "NP_620060.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 1642,
"cds_start": 927,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "NM_001376262.1",
"protein_id": "NP_001363191.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1518,
"cds_start": 999,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "NM_001376263.1",
"protein_id": "NP_001363192.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1511,
"cds_start": 999,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 6029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "ENST00000688050.1",
"protein_id": "ENSP00000509497.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1511,
"cds_start": 999,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Ser332Ser",
"transcript": "NM_001376266.1",
"protein_id": "NP_001363195.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1510,
"cds_start": 996,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "NM_001376265.1",
"protein_id": "NP_001363194.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1503,
"cds_start": 999,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 6005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "NM_001376267.1",
"protein_id": "NP_001363196.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1481,
"cds_start": 999,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.180G>A",
"hgvs_p": "p.Ser60Ser",
"transcript": "ENST00000693456.1",
"protein_id": "ENSP00000510245.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1229,
"cds_start": 180,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.180G>A",
"hgvs_p": "p.Ser60Ser",
"transcript": "ENST00000689935.1",
"protein_id": "ENSP00000508669.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1199,
"cds_start": 180,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser",
"transcript": "ENST00000417749.6",
"protein_id": "ENSP00000411271.2",
"transcript_support_level": 5,
"aa_start": 333,
"aa_end": null,
"aa_length": 444,
"cds_start": 999,
"cds_end": null,
"cds_length": 1336,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Ser323Ser",
"transcript": "ENST00000437746.2",
"protein_id": "ENSP00000412211.2",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 414,
"cds_start": 969,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Ser104Ser",
"transcript": "ENST00000442300.5",
"protein_id": "ENSP00000388971.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 291,
"cds_start": 312,
"cds_end": null,
"cds_length": 878,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 878,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"hgvs_c": "n.171G>A",
"hgvs_p": null,
"transcript": "ENST00000466324.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRXN2",
"gene_hgnc_id": 8009,
"dbsnp": "rs375837520",
"frequency_reference_population": 0.00004274807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 69,
"gnomad_exomes_af": 0.0000321501,
"gnomad_genomes_af": 0.000144533,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.949,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000704782.1",
"gene_symbol": "NRXN2",
"hgnc_id": 8009,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Ser333Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}