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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: 17-41769491-TTGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41769491&ref=TTGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41769491,
"ref": "TTGA",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000393931.8",
"consequences": [
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "NM_002230.4",
"protein_id": "NP_002221.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "ENST00000393931.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "ENST00000393931.8",
"protein_id": "ENSP00000377508.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "NM_002230.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "ENST00000310706.9",
"protein_id": "ENSP00000311113.5",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "NM_001352773.2",
"protein_id": "NP_001339702.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "NM_001352774.2",
"protein_id": "NP_001339703.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "NM_001352775.2",
"protein_id": "NP_001339704.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "NM_001352776.2",
"protein_id": "NP_001339705.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "NM_001352777.2",
"protein_id": "NP_001339706.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "NM_021991.4",
"protein_id": "NP_068831.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "ENST00000393930.5",
"protein_id": "ENSP00000377507.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "ENST00000449889.5",
"protein_id": "ENSP00000389886.1",
"transcript_support_level": 3,
"aa_start": 131,
"aa_end": null,
"aa_length": 296,
"cds_start": 392,
"cds_end": null,
"cds_length": 893,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "ENST00000437187.5",
"protein_id": "ENSP00000394146.1",
"transcript_support_level": 3,
"aa_start": 131,
"aa_end": null,
"aa_length": 294,
"cds_start": 392,
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"cds_length": 887,
"cdna_start": 536,
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"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "ENST00000420370.5",
"protein_id": "ENSP00000411449.1",
"transcript_support_level": 3,
"aa_start": 131,
"aa_end": null,
"aa_length": 275,
"cds_start": 392,
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"cds_length": 830,
"cdna_start": 479,
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"cdna_length": 915,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "ENST00000424457.5",
"protein_id": "ENSP00000401034.1",
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"aa_start": 131,
"aa_end": null,
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"cds_start": 392,
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"cdna_start": 636,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.443_445delTCA",
"hgvs_p": "p.Ile148del",
"transcript": "XM_047435934.1",
"protein_id": "XP_047291890.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 762,
"cds_start": 443,
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"cds_length": 2289,
"cdna_start": 906,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.443_445delTCA",
"hgvs_p": "p.Ile148del",
"transcript": "XM_047435935.1",
"protein_id": "XP_047291891.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 443,
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"cdna_start": 928,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.443_445delTCA",
"hgvs_p": "p.Ile148del",
"transcript": "XM_047435937.1",
"protein_id": "XP_047291893.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 762,
"cds_start": 443,
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"cdna_start": 856,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "XM_006721874.4",
"protein_id": "XP_006721937.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
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"cdna_start": 548,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "N",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "XM_006721875.2",
"protein_id": "XP_006721938.1",
"transcript_support_level": null,
"aa_start": 131,
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"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "XM_011524758.2",
"protein_id": "XP_011523060.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "XM_017024590.2",
"protein_id": "XP_016880079.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del",
"transcript": "XM_047435938.1",
"protein_id": "XP_047291894.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 392,
"cds_end": null,
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"cdna_start": 466,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IN",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
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},
{
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},
{
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},
{
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},
{
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],
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},
{
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],
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"gene_symbol": "JUP",
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"hgvs_c": "c.*132_*134delTCA",
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"transcript": "ENST00000437369.5",
"protein_id": "ENSP00000409948.1",
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"cds_end": null,
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"cdna_length": 586,
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"feature": null
}
],
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"dbsnp": "rs781818082",
"frequency_reference_population": 0.000017357861,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000171123,
"gnomad_genomes_af": 0.0000197153,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.14000000059604645,
"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": 9.314,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.14,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000393931.8",
"gene_symbol": "JUP",
"hgnc_id": 6207,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.392_394delTCA",
"hgvs_p": "p.Ile131del"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 12,Cardiovascular phenotype,Naxos disease,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not specified|not provided|Cardiovascular phenotype|Naxos disease;Arrhythmogenic right ventricular dysplasia 12",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}