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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: 6-123366142-AA-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=123366142&ref=AA&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TRDN",
"hgnc_id": 12261,
"hgvs_c": "c.1313_1314delTTinsGC",
"hgvs_p": "p.Ile438Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006073.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Catecholaminergic polymorphic ventricular tachycardia 1",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "I",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006073.4",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1313_1314delTTinsGC",
"hgvs_p": "p.Ile438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334268.9",
"protein_coding": true,
"protein_id": "NP_006064.2",
"strand": false,
"transcript": "NM_006073.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "I",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334268.9",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1313_1314delTTinsGC",
"hgvs_p": "p.Ile438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006073.4",
"protein_coding": true,
"protein_id": "ENSP00000333984.5",
"strand": false,
"transcript": "ENST00000334268.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 730,
"aa_ref": "I",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962661.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1316_1317delTTinsGC",
"hgvs_p": "p.Ile439Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632720.1",
"strand": false,
"transcript": "ENST00000962661.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "I",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4889,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962654.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1313_1314delTTinsGC",
"hgvs_p": "p.Ile438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632713.1",
"strand": false,
"transcript": "ENST00000962654.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "I",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962655.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1313_1314delTTinsGC",
"hgvs_p": "p.Ile438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632714.1",
"strand": false,
"transcript": "ENST00000962655.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "I",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962660.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1316_1317delTTinsGC",
"hgvs_p": "p.Ile439Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632719.1",
"strand": false,
"transcript": "ENST00000962660.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "I",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962662.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1316_1317delTTinsGC",
"hgvs_p": "p.Ile439Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632721.1",
"strand": false,
"transcript": "ENST00000962662.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 728,
"aa_ref": "I",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962653.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1310_1311delTTinsGC",
"hgvs_p": "p.Ile437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632712.1",
"strand": false,
"transcript": "ENST00000962653.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 728,
"aa_ref": "I",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962656.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1310_1311delTTinsGC",
"hgvs_p": "p.Ile437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632715.1",
"strand": false,
"transcript": "ENST00000962656.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 728,
"aa_ref": "I",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962663.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1310_1311delTTinsGC",
"hgvs_p": "p.Ile437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632722.1",
"strand": false,
"transcript": "ENST00000962663.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 728,
"aa_ref": "I",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962664.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1313_1314delTTinsGC",
"hgvs_p": "p.Ile438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632723.1",
"strand": false,
"transcript": "ENST00000962664.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 727,
"aa_ref": "I",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962659.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1307_1308delTTinsGC",
"hgvs_p": "p.Ile436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632718.1",
"strand": false,
"transcript": "ENST00000962659.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 727,
"aa_ref": "I",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3679,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962682.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1310_1311delTTinsGC",
"hgvs_p": "p.Ile437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632741.1",
"strand": false,
"transcript": "ENST00000962682.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 726,
"aa_ref": "I",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4569,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962678.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1313_1314delTTinsGC",
"hgvs_p": "p.Ile438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632737.1",
"strand": false,
"transcript": "ENST00000962678.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 725,
"aa_ref": "I",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962674.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1310_1311delTTinsGC",
"hgvs_p": "p.Ile437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632733.1",
"strand": false,
"transcript": "ENST00000962674.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 719,
"aa_ref": "I",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962657.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1283_1284delTTinsGC",
"hgvs_p": "p.Ile428Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632716.1",
"strand": false,
"transcript": "ENST00000962657.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 719,
"aa_ref": "I",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962666.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1283_1284delTTinsGC",
"hgvs_p": "p.Ile428Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632725.1",
"strand": false,
"transcript": "ENST00000962666.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 719,
"aa_ref": "I",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962671.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1283_1284delTTinsGC",
"hgvs_p": "p.Ile428Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632730.1",
"strand": false,
"transcript": "ENST00000962671.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "I",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1280,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962673.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1280_1281delTTinsGC",
"hgvs_p": "p.Ile427Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632732.1",
"strand": false,
"transcript": "ENST00000962673.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "I",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962676.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1283_1284delTTinsGC",
"hgvs_p": "p.Ile428Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632735.1",
"strand": false,
"transcript": "ENST00000962676.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 717,
"aa_ref": "I",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5880,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
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