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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: 12-64488488-GAATT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64488488&ref=GAATT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 64488488,
"ref": "GAATT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_013254.4",
"consequences": [
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "NM_013254.4",
"protein_id": "NP_037386.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 729,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331710.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013254.4"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "ENST00000331710.10",
"protein_id": "ENSP00000329967.5",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 729,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013254.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331710.10"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "ENST00000650790.1",
"protein_id": "ENSP00000498995.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 729,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650790.1"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "ENST00000911930.1",
"protein_id": "ENSP00000581989.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 729,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911930.1"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "ENST00000970119.1",
"protein_id": "ENSP00000640178.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 729,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970119.1"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "ENST00000677641.1",
"protein_id": "ENSP00000504637.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 728,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677641.1"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "ENST00000677632.1",
"protein_id": "ENSP00000504586.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 724,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677632.1"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "ENST00000652657.1",
"protein_id": "ENSP00000498887.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 705,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652657.1"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1193_1196delTTAA",
"hgvs_p": "p.Ile398fs",
"transcript": "ENST00000651014.1",
"protein_id": "ENSP00000498885.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 677,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651014.1"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1193_1196delTTAA",
"hgvs_p": "p.Ile398fs",
"transcript": "ENST00000676912.1",
"protein_id": "ENSP00000503567.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 677,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676912.1"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1001_1004delTTAA",
"hgvs_p": "p.Ile334fs",
"transcript": "ENST00000676930.1",
"protein_id": "ENSP00000502899.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 613,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676930.1"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "XM_005268809.2",
"protein_id": "XP_005268866.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 729,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268809.2"
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs",
"transcript": "XM_005268810.2",
"protein_id": "XP_005268867.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 729,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268810.2"
},
{
"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": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1341-1546_1341-1543delTTAA",
"hgvs_p": null,
"transcript": "ENST00000678180.1",
"protein_id": "ENSP00000504132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": null,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678180.1"
},
{
"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": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1185-1546_1185-1543delTTAA",
"hgvs_p": null,
"transcript": "ENST00000650762.1",
"protein_id": "ENSP00000498758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": null,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650762.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.665_668delTTAA",
"hgvs_p": null,
"transcript": "ENST00000536906.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000536906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.1223_1226delTTAA",
"hgvs_p": null,
"transcript": "ENST00000650708.1",
"protein_id": "ENSP00000498667.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000650708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*1494_*1497delTTAA",
"hgvs_p": null,
"transcript": "ENST00000650786.1",
"protein_id": "ENSP00000498280.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000650786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.1349_1352delTTAA",
"hgvs_p": null,
"transcript": "ENST00000650997.1",
"protein_id": "ENSP00000498341.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000650997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.1349_1352delTTAA",
"hgvs_p": null,
"transcript": "ENST00000651262.1",
"protein_id": "ENSP00000498461.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000651262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*833_*836delTTAA",
"hgvs_p": null,
"transcript": "ENST00000651878.1",
"protein_id": "ENSP00000499077.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000651878.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.1068_1071delTTAA",
"hgvs_p": null,
"transcript": "ENST00000651889.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677831.1"
}
],
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"dbsnp": "rs876657404",
"frequency_reference_population": 0.00000286384,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000286384,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.65,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_013254.4",
"gene_symbol": "TBK1",
"hgnc_id": 11584,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1349_1352delTTAA",
"hgvs_p": "p.Ile450fs"
}
],
"clinvar_disease": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}