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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: 1-235427143-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235427143&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235427143,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000642610.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "NM_003193.5",
"protein_id": "NP_003184.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 527,
"cds_start": 464,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "ENST00000642610.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000642610.2",
"protein_id": "ENSP00000494796.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 527,
"cds_start": 464,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "NM_003193.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000647186.1",
"protein_id": "ENSP00000494775.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 527,
"cds_start": 464,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.372-3562T>A",
"hgvs_p": null,
"transcript": "ENST00000366601.8",
"protein_id": "ENSP00000355560.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "NM_001287801.2",
"protein_id": "NP_001274730.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 578,
"cds_start": 464,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000543662.4",
"protein_id": "ENSP00000439170.1",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 578,
"cds_start": 464,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000644217.1",
"protein_id": "ENSP00000494646.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 549,
"cds_start": 464,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "NM_001079515.3",
"protein_id": "NP_001072983.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 527,
"cds_start": 464,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000406207.5",
"protein_id": "ENSP00000384571.1",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 527,
"cds_start": 464,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000645205.1",
"protein_id": "ENSP00000495823.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 527,
"cds_start": 464,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000645351.1",
"protein_id": "ENSP00000494319.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 527,
"cds_start": 464,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000645655.1",
"protein_id": "ENSP00000495202.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 527,
"cds_start": 464,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000646624.1",
"protein_id": "ENSP00000494575.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 527,
"cds_start": 464,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000645899.1",
"protein_id": "ENSP00000496773.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 520,
"cds_start": 464,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.278T>A",
"hgvs_p": "p.Ile93Asn",
"transcript": "ENST00000644578.1",
"protein_id": "ENSP00000495953.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 487,
"cds_start": 278,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.125T>A",
"hgvs_p": "p.Ile42Asn",
"transcript": "NM_001287802.2",
"protein_id": "NP_001274731.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 414,
"cds_start": 125,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.125T>A",
"hgvs_p": "p.Ile42Asn",
"transcript": "ENST00000647428.1",
"protein_id": "ENSP00000495630.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 414,
"cds_start": 125,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.125T>A",
"hgvs_p": "p.Ile42Asn",
"transcript": "ENST00000651186.1",
"protein_id": "ENSP00000498645.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 414,
"cds_start": 125,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn",
"transcript": "ENST00000646281.1",
"protein_id": "ENSP00000495225.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 369,
"cds_start": 464,
"cds_end": null,
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"cdna_start": 941,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.230T>A",
"hgvs_p": "p.Ile77Asn",
"transcript": "ENST00000647407.1",
"protein_id": "ENSP00000495319.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 133,
"cds_start": 230,
"cds_end": null,
"cds_length": 402,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.104T>A",
"hgvs_p": "p.Ile35Asn",
"transcript": "ENST00000645372.1",
"protein_id": "ENSP00000496612.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 109,
"cds_start": 104,
"cds_end": null,
"cds_length": 330,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "n.250T>A",
"hgvs_p": null,
"transcript": "ENST00000461651.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "n.550T>A",
"hgvs_p": null,
"transcript": "ENST00000472011.6",
"protein_id": null,
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"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000642610.2",
"gene_symbol": "TBCE",
"hgnc_id": 11582,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000647186.1",
"gene_symbol": "ENSG00000285053",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.464T>A",
"hgvs_p": "p.Ile155Asn"
}
],
"clinvar_disease": " progressive, with amyotrophy and optic atrophy,Encephalopathy,TBCE-related disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "Encephalopathy, progressive, with amyotrophy and optic atrophy|not provided|TBCE-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}