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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: 2-49922076-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=49922076&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 49922076,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000401669.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"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.4392T>G",
"hgvs_p": "p.His1464Gln",
"transcript": "NM_001330078.2",
"protein_id": "NP_001317007.1",
"transcript_support_level": null,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4392,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 5465,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "ENST00000401669.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.4392T>G",
"hgvs_p": "p.His1464Gln",
"transcript": "ENST00000401669.7",
"protein_id": "ENSP00000385017.2",
"transcript_support_level": 5,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4392,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 5465,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "NM_001330078.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.4512T>G",
"hgvs_p": "p.His1504Gln",
"transcript": "ENST00000404971.5",
"protein_id": "ENSP00000385142.1",
"transcript_support_level": 1,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1547,
"cds_start": 4512,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 5852,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.4359T>G",
"hgvs_p": "p.His1453Gln",
"transcript": "ENST00000625672.2",
"protein_id": "ENSP00000485887.1",
"transcript_support_level": 1,
"aa_start": 1453,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4359,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 4542,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.1197T>G",
"hgvs_p": "p.His399Gln",
"transcript": "ENST00000342183.9",
"protein_id": "ENSP00000341184.5",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 442,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.288T>G",
"hgvs_p": "p.His96Gln",
"transcript": "ENST00000412315.5",
"protein_id": "ENSP00000396738.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 139,
"cds_start": 288,
"cds_end": null,
"cds_length": 420,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.4512T>G",
"hgvs_p": "p.His1504Gln",
"transcript": "NM_001135659.3",
"protein_id": "NP_001129131.1",
"transcript_support_level": null,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1547,
"cds_start": 4512,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 5585,
"cdna_end": null,
"cdna_length": 9158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.4389T>G",
"hgvs_p": "p.His1463Gln",
"transcript": "NM_001330093.2",
"protein_id": "NP_001317022.1",
"transcript_support_level": null,
"aa_start": 1463,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4389,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 5462,
"cdna_end": null,
"cdna_length": 9035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.4383T>G",
"hgvs_p": "p.His1461Gln",
"transcript": "NM_001330086.2",
"protein_id": "NP_001317015.1",
"transcript_support_level": null,
"aa_start": 1461,
"aa_end": null,
"aa_length": 1504,
"cds_start": 4383,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 5456,
"cdna_end": null,
"cdna_length": 9029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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.4371T>G",
"hgvs_p": "p.His1457Gln",
"transcript": "NM_001330094.2",
"protein_id": "NP_001317023.1",
"transcript_support_level": null,
"aa_start": 1457,
"aa_end": null,
"aa_length": 1500,
"cds_start": 4371,
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"cds_length": 4503,
"cdna_start": 5444,
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"cdna_length": 9017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4368T>G",
"hgvs_p": "p.His1456Gln",
"transcript": "NM_001330077.2",
"protein_id": "NP_001317006.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4368,
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"cdna_start": 5441,
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},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "NRXN1",
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"hgvs_c": "c.4368T>G",
"hgvs_p": "p.His1456Gln",
"transcript": "ENST00000630543.2",
"protein_id": "ENSP00000486879.1",
"transcript_support_level": 5,
"aa_start": 1456,
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"cds_start": 4368,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4365T>G",
"hgvs_p": "p.His1455Gln",
"transcript": "NM_001330085.2",
"protein_id": "NP_001317014.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1498,
"cds_start": 4365,
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"cdna_start": 5438,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4359T>G",
"hgvs_p": "p.His1453Gln",
"transcript": "NM_001330082.2",
"protein_id": "NP_001317011.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4356T>G",
"hgvs_p": "p.His1452Gln",
"transcript": "ENST00000405472.7",
"protein_id": "ENSP00000434015.2",
"transcript_support_level": 5,
"aa_start": 1452,
"aa_end": null,
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"cds_start": 4356,
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"cdna_start": 5411,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4326T>G",
"hgvs_p": "p.His1442Gln",
"transcript": "NM_001330084.2",
"protein_id": "NP_001317013.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4302T>G",
"hgvs_p": "p.His1434Gln",
"transcript": "NM_004801.6",
"protein_id": "NP_004792.1",
"transcript_support_level": null,
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"cds_start": 4302,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"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.4302T>G",
"hgvs_p": "p.His1434Gln",
"transcript": "ENST00000406316.6",
"protein_id": "ENSP00000384311.2",
"transcript_support_level": 5,
"aa_start": 1434,
"aa_end": null,
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"cds_start": 4302,
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},
{
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],
"exon_rank": 20,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4251T>G",
"hgvs_p": "p.His1417Gln",
"transcript": "NM_001330095.2",
"protein_id": "NP_001317024.1",
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},
{
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"consequences": [
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],
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4227T>G",
"hgvs_p": "p.His1409Gln",
"transcript": "NM_001330083.2",
"protein_id": "NP_001317012.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4212T>G",
"hgvs_p": "p.His1404Gln",
"transcript": "NM_001330088.2",
"protein_id": "NP_001317017.1",
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"biotype": null,
"feature": null
},
{
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"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.4191T>G",
"hgvs_p": "p.His1397Gln",
"transcript": "NM_001330087.2",
"protein_id": "NP_001317016.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4191,
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"cdna_start": 5264,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}