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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: 13-72835296-T-TGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=72835296&ref=T&alt=TGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 72835296,
"ref": "T",
"alt": "TGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000326291.11",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "NM_006346.4",
"protein_id": "NP_006337.2",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 757,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": "ENST00000326291.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "ENST00000326291.11",
"protein_id": "ENSP00000317144.6",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 757,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": "NM_006346.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "ENST00000617689.4",
"protein_id": "ENSP00000478697.1",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 698,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.-208_-207insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": null,
"transcript": "ENST00000615625.1",
"protein_id": "ENSP00000483286.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": -4,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "NM_001349655.2",
"protein_id": "NP_001336584.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 786,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_011534882.4",
"protein_id": "XP_011533184.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 714,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_047430045.1",
"protein_id": "XP_047286001.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 688,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_024449314.2",
"protein_id": "XP_024305082.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 685,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_047430046.1",
"protein_id": "XP_047286002.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 665,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.782_783insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile261delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_011534885.4",
"protein_id": "XP_011533187.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 663,
"cds_start": 783,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 2868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "MLRRLKTNQEIDH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_047430047.1",
"protein_id": "XP_047286003.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 659,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1416,
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"cdna_length": 2402,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_011534884.4",
"protein_id": "XP_011533186.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 640,
"cds_start": 1152,
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"cdna_start": 1416,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_047430048.1",
"protein_id": "XP_047286004.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 636,
"cds_start": 1152,
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"cds_length": 1911,
"cdna_start": 1416,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_047430049.1",
"protein_id": "XP_047286005.1",
"transcript_support_level": null,
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"cds_start": 1152,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_017020351.2",
"protein_id": "XP_016875840.1",
"transcript_support_level": null,
"aa_start": 384,
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"aa_length": 587,
"cds_start": 1152,
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"cdna_start": 1416,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_011534886.4",
"protein_id": "XP_011533188.1",
"transcript_support_level": null,
"aa_start": 384,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis",
"transcript": "XM_047430050.1",
"protein_id": "XP_047286006.1",
"transcript_support_level": null,
"aa_start": 384,
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"cds_start": 1152,
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"feature": null
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "n.1438_1439insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": null,
"transcript": "NR_146205.2",
"protein_id": null,
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"mane_select": null,
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"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": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "n.1438_1439insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": null,
"transcript": "NR_146206.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"hgvs_c": "n.*20_*21insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": null,
"transcript": "ENST00000492803.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIBF1",
"gene_hgnc_id": 23352,
"dbsnp": "rs1131692160",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.25,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000326291.11",
"gene_symbol": "PIBF1",
"hgnc_id": 23352,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA",
"hgvs_p": "p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis"
}
],
"clinvar_disease": "Joubert syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Joubert syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}