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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: 14-78709277-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=78709277&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 78709277,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330195.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro",
"transcript": "NM_001330195.2",
"protein_id": "NP_001317124.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1571,
"cds_start": 1282,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335750.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330195.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro",
"transcript": "ENST00000335750.7",
"protein_id": "ENSP00000338349.7",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 1571,
"cds_start": 1282,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330195.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335750.7"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.163A>C",
"hgvs_p": "p.Thr55Pro",
"transcript": "ENST00000554719.5",
"protein_id": "ENSP00000451648.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 1061,
"cds_start": 163,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554719.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "n.626A>C",
"hgvs_p": null,
"transcript": "ENST00000556496.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000556496.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro",
"transcript": "NM_001366425.1",
"protein_id": "NP_001353354.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1541,
"cds_start": 1282,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366425.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1294A>C",
"hgvs_p": "p.Thr432Pro",
"transcript": "NM_001366426.1",
"protein_id": "NP_001353355.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1468,
"cds_start": 1294,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366426.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1294A>C",
"hgvs_p": "p.Thr432Pro",
"transcript": "ENST00000634499.2",
"protein_id": "ENSP00000488920.2",
"transcript_support_level": 5,
"aa_start": 432,
"aa_end": null,
"aa_length": 1468,
"cds_start": 1294,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634499.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1276A>C",
"hgvs_p": "p.Thr426Pro",
"transcript": "ENST00000554738.5",
"protein_id": "ENSP00000450683.1",
"transcript_support_level": 5,
"aa_start": 426,
"aa_end": null,
"aa_length": 1392,
"cds_start": 1276,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554738.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Thr175Pro",
"transcript": "ENST00000635466.2",
"protein_id": "ENSP00000489551.2",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 1327,
"cds_start": 523,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635466.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.163A>C",
"hgvs_p": "p.Thr55Pro",
"transcript": "NM_004796.6",
"protein_id": "NP_004787.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1061,
"cds_start": 163,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004796.6"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1318A>C",
"hgvs_p": "p.Thr440Pro",
"transcript": "XM_011537363.2",
"protein_id": "XP_011535665.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 1687,
"cds_start": 1318,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537363.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1318A>C",
"hgvs_p": "p.Thr440Pro",
"transcript": "XM_005268218.4",
"protein_id": "XP_005268275.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 1684,
"cds_start": 1318,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268218.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1306A>C",
"hgvs_p": "p.Thr436Pro",
"transcript": "XM_006720322.3",
"protein_id": "XP_006720385.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 1683,
"cds_start": 1306,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720322.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1294A>C",
"hgvs_p": "p.Thr432Pro",
"transcript": "XM_011537366.2",
"protein_id": "XP_011535668.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1679,
"cds_start": 1294,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537366.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1294A>C",
"hgvs_p": "p.Thr432Pro",
"transcript": "XM_047431939.1",
"protein_id": "XP_047287895.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1676,
"cds_start": 1294,
"cds_end": null,
"cds_length": 5031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431939.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro",
"transcript": "XM_017021794.2",
"protein_id": "XP_016877283.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1675,
"cds_start": 1282,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021794.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro",
"transcript": "XM_047431940.1",
"protein_id": "XP_047287896.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1672,
"cds_start": 1282,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431940.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro",
"transcript": "XM_017021798.2",
"protein_id": "XP_016877287.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1666,
"cds_start": 1282,
"cds_end": null,
"cds_length": 5001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021798.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro",
"transcript": "XM_047431941.1",
"protein_id": "XP_047287897.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1663,
"cds_start": 1282,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431941.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1318A>C",
"hgvs_p": "p.Thr440Pro",
"transcript": "XM_017021799.3",
"protein_id": "XP_016877288.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 1654,
"cds_start": 1318,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021799.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro",
"transcript": "XM_047431942.1",
"protein_id": "XP_047287898.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1645,
"cds_start": 1282,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431942.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN3",
"gene_hgnc_id": 8010,
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro",
"transcript": "XM_047431943.1",
"protein_id": "XP_047287899.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1642,
"cds_start": 1282,
"cds_end": null,
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"inheritance_mode": "AD",
"hgvs_c": "c.1282A>C",
"hgvs_p": "p.Thr428Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_188165.1",
"gene_symbol": "NRXN3-AS2",
"hgnc_id": 58461,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.684T>G",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000838198.1",
"gene_symbol": "ENSG00000258874",
"hgnc_id": 58461,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.703T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}