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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: X-18893591-TAAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18893591&ref=TAAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18893591,
"ref": "TAAA",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001440805.1",
"consequences": [
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3599_3601delTTT",
"hgvs_p": "p.Phe1200del",
"transcript": "NM_000292.3",
"protein_id": "NP_000283.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3599,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3783,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": "ENST00000379942.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000292.3"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3599_3601delTTT",
"hgvs_p": "p.Phe1200del",
"transcript": "ENST00000379942.5",
"protein_id": "ENSP00000369274.4",
"transcript_support_level": 1,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3599,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3783,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": "NM_000292.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379942.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHKA2-AS1",
"gene_hgnc_id": 44110,
"hgvs_c": "n.467+255_467+257delAAA",
"hgvs_p": null,
"transcript": "ENST00000452900.5",
"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": 656,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000452900.5"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3623_3625delTTT",
"hgvs_p": "p.Phe1208del",
"transcript": "NM_001440805.1",
"protein_id": "NP_001427734.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3623,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3807,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440805.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3623_3625delTTT",
"hgvs_p": "p.Phe1208del",
"transcript": "ENST00000897868.1",
"protein_id": "ENSP00000567927.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3623,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4681,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897868.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3584_3586delTTT",
"hgvs_p": "p.Phe1195del",
"transcript": "ENST00000954730.1",
"protein_id": "ENSP00000624789.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3584,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3748,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954730.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3572_3574delTTT",
"hgvs_p": "p.Phe1191del",
"transcript": "ENST00000897873.1",
"protein_id": "ENSP00000567932.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897873.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3545_3547delTTT",
"hgvs_p": "p.Phe1182del",
"transcript": "NM_001440800.1",
"protein_id": "NP_001427729.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3545,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3729,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440800.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3545_3547delTTT",
"hgvs_p": "p.Phe1182del",
"transcript": "ENST00000897869.1",
"protein_id": "ENSP00000567928.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3545,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 5144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897869.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3515_3517delTTT",
"hgvs_p": "p.Phe1172del",
"transcript": "NM_001440801.1",
"protein_id": "NP_001427730.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3515,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3699,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440801.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3515_3517delTTT",
"hgvs_p": "p.Phe1172del",
"transcript": "ENST00000897867.1",
"protein_id": "ENSP00000567926.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3515,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 4259,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897867.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3509_3511delTTT",
"hgvs_p": "p.Phe1170del",
"transcript": "ENST00000954732.1",
"protein_id": "ENSP00000624791.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3509,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954732.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3500_3502delTTT",
"hgvs_p": "p.Phe1167del",
"transcript": "NM_001440802.1",
"protein_id": "NP_001427731.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3500,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3684,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440802.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3500_3502delTTT",
"hgvs_p": "p.Phe1167del",
"transcript": "ENST00000897870.1",
"protein_id": "ENSP00000567929.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3500,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 4250,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897870.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3500_3502delTTT",
"hgvs_p": "p.Phe1167del",
"transcript": "ENST00000934920.1",
"protein_id": "ENSP00000604979.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3500,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 4077,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934920.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3467_3469delTTT",
"hgvs_p": "p.Phe1156del",
"transcript": "ENST00000934921.1",
"protein_id": "ENSP00000604980.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3467,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 3915,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934921.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3464_3466delTTT",
"hgvs_p": "p.Phe1155del",
"transcript": "ENST00000954728.1",
"protein_id": "ENSP00000624787.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3464,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 3943,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954728.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3461_3463delTTT",
"hgvs_p": "p.Phe1154del",
"transcript": "ENST00000934923.1",
"protein_id": "ENSP00000604982.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3461,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934923.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3446_3448delTTT",
"hgvs_p": "p.Phe1149del",
"transcript": "NM_001440803.1",
"protein_id": "NP_001427732.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440803.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3446_3448delTTT",
"hgvs_p": "p.Phe1149del",
"transcript": "ENST00000954729.1",
"protein_id": "ENSP00000624788.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 3873,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954729.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3416_3418delTTT",
"hgvs_p": "p.Phe1139del",
"transcript": "NM_001440804.1",
"protein_id": "NP_001427733.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3416,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440804.1"
},
{
"aa_ref": "FY",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"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",
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.892,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001440805.1",
"gene_symbol": "PHKA2",
"hgnc_id": 8926,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "XL,AR",
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"hgvs_p": "p.Phe1208del"
},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000452900.5",
"gene_symbol": "PHKA2-AS1",
"hgnc_id": 44110,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.467+255_467+257delAAA",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}