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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: 2-50091429-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=50091429&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 50091429,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000401669.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3612T>A",
"hgvs_p": "p.Asn1204Lys",
"transcript": "NM_001330078.2",
"protein_id": "NP_001317007.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1507,
"cds_start": 3612,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 4685,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "ENST00000401669.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3612T>A",
"hgvs_p": "p.Asn1204Lys",
"transcript": "ENST00000401669.7",
"protein_id": "ENSP00000385017.2",
"transcript_support_level": 5,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1507,
"cds_start": 3612,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 4685,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "NM_001330078.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3732T>A",
"hgvs_p": "p.Asn1244Lys",
"transcript": "ENST00000404971.5",
"protein_id": "ENSP00000385142.1",
"transcript_support_level": 1,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1547,
"cds_start": 3732,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 5072,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3588T>A",
"hgvs_p": "p.Asn1196Lys",
"transcript": "ENST00000625672.2",
"protein_id": "ENSP00000485887.1",
"transcript_support_level": 1,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3588,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3771,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.507T>A",
"hgvs_p": "p.Asn169Lys",
"transcript": "ENST00000342183.9",
"protein_id": "ENSP00000341184.5",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 442,
"cds_start": 507,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3732T>A",
"hgvs_p": "p.Asn1244Lys",
"transcript": "NM_001135659.3",
"protein_id": "NP_001129131.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1547,
"cds_start": 3732,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 4805,
"cdna_end": null,
"cdna_length": 9158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3609T>A",
"hgvs_p": "p.Asn1203Lys",
"transcript": "NM_001330093.2",
"protein_id": "NP_001317022.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1506,
"cds_start": 3609,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 4682,
"cdna_end": null,
"cdna_length": 9035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3612T>A",
"hgvs_p": "p.Asn1204Lys",
"transcript": "NM_001330086.2",
"protein_id": "NP_001317015.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3612,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 4685,
"cdna_end": null,
"cdna_length": 9029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3600T>A",
"hgvs_p": "p.Asn1200Lys",
"transcript": "NM_001330094.2",
"protein_id": "NP_001317023.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1500,
"cds_start": 3600,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 4673,
"cdna_end": null,
"cdna_length": 9017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3588T>A",
"hgvs_p": "p.Asn1196Lys",
"transcript": "NM_001330077.2",
"protein_id": "NP_001317006.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1499,
"cds_start": 3588,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 4661,
"cdna_end": null,
"cdna_length": 9014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3588T>A",
"hgvs_p": "p.Asn1196Lys",
"transcript": "ENST00000630543.2",
"protein_id": "ENSP00000486879.1",
"transcript_support_level": 5,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1499,
"cds_start": 3588,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3585T>A",
"hgvs_p": "p.Asn1195Lys",
"transcript": "NM_001330085.2",
"protein_id": "NP_001317014.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1498,
"cds_start": 3585,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 4658,
"cdna_end": null,
"cdna_length": 9011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3588T>A",
"hgvs_p": "p.Asn1196Lys",
"transcript": "NM_001330082.2",
"protein_id": "NP_001317011.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3588,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 4661,
"cdna_end": null,
"cdna_length": 9005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3576T>A",
"hgvs_p": "p.Asn1192Lys",
"transcript": "ENST00000405472.7",
"protein_id": "ENSP00000434015.2",
"transcript_support_level": 5,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1495,
"cds_start": 3576,
"cds_end": null,
"cds_length": 4488,
"cdna_start": 4631,
"cdna_end": null,
"cdna_length": 5724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3546T>A",
"hgvs_p": "p.Asn1182Lys",
"transcript": "NM_001330084.2",
"protein_id": "NP_001317013.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1485,
"cds_start": 3546,
"cds_end": null,
"cds_length": 4458,
"cdna_start": 4619,
"cdna_end": null,
"cdna_length": 8972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3612T>A",
"hgvs_p": "p.Asn1204Lys",
"transcript": "NM_004801.6",
"protein_id": "NP_004792.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1477,
"cds_start": 3612,
"cds_end": null,
"cds_length": 4434,
"cdna_start": 4685,
"cdna_end": null,
"cdna_length": 8948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3612T>A",
"hgvs_p": "p.Asn1204Lys",
"transcript": "ENST00000406316.6",
"protein_id": "ENSP00000384311.2",
"transcript_support_level": 5,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1477,
"cds_start": 3612,
"cds_end": null,
"cds_length": 4434,
"cdna_start": 5114,
"cdna_end": null,
"cdna_length": 9375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3561T>A",
"hgvs_p": "p.Asn1187Lys",
"transcript": "NM_001330095.2",
"protein_id": "NP_001317024.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3561,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4634,
"cdna_end": null,
"cdna_length": 8897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3546T>A",
"hgvs_p": "p.Asn1182Lys",
"transcript": "NM_001330083.2",
"protein_id": "NP_001317012.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3546,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 4619,
"cdna_end": null,
"cdna_length": 8873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3531T>A",
"hgvs_p": "p.Asn1177Lys",
"transcript": "NM_001330088.2",
"protein_id": "NP_001317017.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3531,
"cds_end": null,
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"cdna_start": 4604,
"cdna_end": null,
"cdna_length": 8858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3501T>A",
"hgvs_p": "p.Asn1167Lys",
"transcript": "NM_001330087.2",
"protein_id": "NP_001317016.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3501,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 4574,
"cdna_end": null,
"cdna_length": 8837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.3501T>A",
"hgvs_p": "p.Asn1167Lys",
"transcript": "NM_001330096.2",
"protein_id": "NP_001317025.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3501,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 4574,
"cdna_end": null,
"cdna_length": 8828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "Inborn genetic diseases,Pitt-Hopkins-like syndrome 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|Pitt-Hopkins-like syndrome 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}