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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: 2-49922131-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=49922131&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 49922131,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000401669.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4337T>A",
"hgvs_p": "p.Leu1446His",
"transcript": "NM_001330078.2",
"protein_id": "NP_001317007.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4337,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 5410,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "ENST00000401669.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4337T>A",
"hgvs_p": "p.Leu1446His",
"transcript": "ENST00000401669.7",
"protein_id": "ENSP00000385017.2",
"transcript_support_level": 5,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4337,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 5410,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "NM_001330078.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4457T>A",
"hgvs_p": "p.Leu1486His",
"transcript": "ENST00000404971.5",
"protein_id": "ENSP00000385142.1",
"transcript_support_level": 1,
"aa_start": 1486,
"aa_end": null,
"aa_length": 1547,
"cds_start": 4457,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 5797,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4304T>A",
"hgvs_p": "p.Leu1435His",
"transcript": "ENST00000625672.2",
"protein_id": "ENSP00000485887.1",
"transcript_support_level": 1,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4304,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 4487,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1142T>A",
"hgvs_p": "p.Leu381His",
"transcript": "ENST00000342183.9",
"protein_id": "ENSP00000341184.5",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 442,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.233T>A",
"hgvs_p": "p.Leu78His",
"transcript": "ENST00000412315.5",
"protein_id": "ENSP00000396738.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 139,
"cds_start": 233,
"cds_end": null,
"cds_length": 420,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4457T>A",
"hgvs_p": "p.Leu1486His",
"transcript": "NM_001135659.3",
"protein_id": "NP_001129131.1",
"transcript_support_level": null,
"aa_start": 1486,
"aa_end": null,
"aa_length": 1547,
"cds_start": 4457,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 5530,
"cdna_end": null,
"cdna_length": 9158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4334T>A",
"hgvs_p": "p.Leu1445His",
"transcript": "NM_001330093.2",
"protein_id": "NP_001317022.1",
"transcript_support_level": null,
"aa_start": 1445,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4334,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 5407,
"cdna_end": null,
"cdna_length": 9035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4328T>A",
"hgvs_p": "p.Leu1443His",
"transcript": "NM_001330086.2",
"protein_id": "NP_001317015.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1504,
"cds_start": 4328,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 5401,
"cdna_end": null,
"cdna_length": 9029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4316T>A",
"hgvs_p": "p.Leu1439His",
"transcript": "NM_001330094.2",
"protein_id": "NP_001317023.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1500,
"cds_start": 4316,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 5389,
"cdna_end": null,
"cdna_length": 9017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4313T>A",
"hgvs_p": "p.Leu1438His",
"transcript": "NM_001330077.2",
"protein_id": "NP_001317006.1",
"transcript_support_level": null,
"aa_start": 1438,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4313,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 5386,
"cdna_end": null,
"cdna_length": 9014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4313T>A",
"hgvs_p": "p.Leu1438His",
"transcript": "ENST00000630543.2",
"protein_id": "ENSP00000486879.1",
"transcript_support_level": 5,
"aa_start": 1438,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4313,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 4313,
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"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4310T>A",
"hgvs_p": "p.Leu1437His",
"transcript": "NM_001330085.2",
"protein_id": "NP_001317014.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1498,
"cds_start": 4310,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 5383,
"cdna_end": null,
"cdna_length": 9011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4304T>A",
"hgvs_p": "p.Leu1435His",
"transcript": "NM_001330082.2",
"protein_id": "NP_001317011.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
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"cds_start": 4304,
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"cdna_start": 5377,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4301T>A",
"hgvs_p": "p.Leu1434His",
"transcript": "ENST00000405472.7",
"protein_id": "ENSP00000434015.2",
"transcript_support_level": 5,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4301,
"cds_end": null,
"cds_length": 4488,
"cdna_start": 5356,
"cdna_end": null,
"cdna_length": 5724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4271T>A",
"hgvs_p": "p.Leu1424His",
"transcript": "NM_001330084.2",
"protein_id": "NP_001317013.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
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"cds_start": 4271,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4247T>A",
"hgvs_p": "p.Leu1416His",
"transcript": "NM_004801.6",
"protein_id": "NP_004792.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1477,
"cds_start": 4247,
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"cds_length": 4434,
"cdna_start": 5320,
"cdna_end": null,
"cdna_length": 8948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4247T>A",
"hgvs_p": "p.Leu1416His",
"transcript": "ENST00000406316.6",
"protein_id": "ENSP00000384311.2",
"transcript_support_level": 5,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1477,
"cds_start": 4247,
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"cdna_start": 5749,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"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": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4196T>A",
"hgvs_p": "p.Leu1399His",
"transcript": "NM_001330095.2",
"protein_id": "NP_001317024.1",
"transcript_support_level": null,
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"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4172T>A",
"hgvs_p": "p.Leu1391His",
"transcript": "NM_001330083.2",
"protein_id": "NP_001317012.1",
"transcript_support_level": null,
"aa_start": 1391,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4157T>A",
"hgvs_p": "p.Leu1386His",
"transcript": "NM_001330088.2",
"protein_id": "NP_001317017.1",
"transcript_support_level": null,
"aa_start": 1386,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4157,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 5230,
"cdna_end": null,
"cdna_length": 8858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4136T>A",
"hgvs_p": "p.Leu1379His",
"transcript": "NM_001330087.2",
"protein_id": "NP_001317016.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4136,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 5209,
"cdna_end": null,
"cdna_length": 8837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
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],
"clinvar_disease": "Pitt-Hopkins-like syndrome 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Pitt-Hopkins-like syndrome 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}