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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: 8-144084579-AGTACAAGTATGAC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144084579&ref=AGTACAAGTATGAC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144084579,
"ref": "AGTACAAGTATGAC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000355091.9",
"consequences": [
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.981_993delGTACAAGTATGAC",
"hgvs_p": "p.Gln327fs",
"transcript": "NM_003801.4",
"protein_id": "NP_003792.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 621,
"cds_start": 981,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "ENST00000355091.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.981_993delGTACAAGTATGAC",
"hgvs_p": "p.Gln327fs",
"transcript": "ENST00000355091.9",
"protein_id": "ENSP00000347206.4",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 621,
"cds_start": 981,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "NM_003801.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.801_813delGTACAAGTATGAC",
"hgvs_p": "p.Gln267fs",
"transcript": "ENST00000361036.11",
"protein_id": "ENSP00000354316.6",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 561,
"cds_start": 801,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.981_993delGTACAAGTATGAC",
"hgvs_p": "p.Gln327fs",
"transcript": "ENST00000703648.1",
"protein_id": "ENSP00000515415.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 626,
"cds_start": 981,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.981_993delGTACAAGTATGAC",
"hgvs_p": "p.Gln327fs",
"transcript": "ENST00000703649.1",
"protein_id": "ENSP00000515416.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 624,
"cds_start": 981,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.975_987delGTACAAGTATGAC",
"hgvs_p": "p.Gln325fs",
"transcript": "ENST00000703620.1",
"protein_id": "ENSP00000515404.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 619,
"cds_start": 975,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.939_951delGTACAAGTATGAC",
"hgvs_p": "p.Gln313fs",
"transcript": "ENST00000524418.6",
"protein_id": "ENSP00000434544.2",
"transcript_support_level": 3,
"aa_start": 313,
"aa_end": null,
"aa_length": 607,
"cds_start": 939,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.939_951delGTACAAGTATGAC",
"hgvs_p": "p.Gln313fs",
"transcript": "ENST00000703633.1",
"protein_id": "ENSP00000515410.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 607,
"cds_start": 939,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.981_993delGTACAAGTATGAC",
"hgvs_p": "p.Gln327fs",
"transcript": "ENST00000703621.1",
"protein_id": "ENSP00000515405.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 606,
"cds_start": 981,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.975_987delGTACAAGTATGAC",
"hgvs_p": "p.Gln325fs",
"transcript": "ENST00000704807.1",
"protein_id": "ENSP00000516044.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 604,
"cds_start": 975,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.939_951delGTACAAGTATGAC",
"hgvs_p": "p.Gln313fs",
"transcript": "ENST00000704809.1",
"protein_id": "ENSP00000516046.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 592,
"cds_start": 939,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.981_993delGTACAAGTATGAC",
"hgvs_p": "p.Gln327fs",
"transcript": "ENST00000703622.1",
"protein_id": "ENSP00000515406.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 580,
"cds_start": 981,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.801_813delGTACAAGTATGAC",
"hgvs_p": "p.Gln267fs",
"transcript": "ENST00000704806.1",
"protein_id": "ENSP00000516043.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 546,
"cds_start": 801,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.615_627delGTACAAGTATGAC",
"hgvs_p": "p.Gln205fs",
"transcript": "ENST00000704794.1",
"protein_id": "ENSP00000516039.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 499,
"cds_start": 615,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.579_591delGTACAAGTATGAC",
"hgvs_p": "p.Gln193fs",
"transcript": "ENST00000704789.1",
"protein_id": "ENSP00000516036.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 487,
"cds_start": 579,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.615_627delGTACAAGTATGAC",
"hgvs_p": "p.Gln205fs",
"transcript": "ENST00000703635.1",
"protein_id": "ENSP00000515412.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 431,
"cds_start": 615,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QYKYD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.765_777delGTACAAGTATGAC",
"hgvs_p": "p.Gln255fs",
"transcript": "ENST00000525087.6",
"protein_id": "ENSP00000434485.3",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 347,
"cds_start": 765,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1161,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.1376_1388delGTACAAGTATGAC",
"hgvs_p": null,
"transcript": "ENST00000525308.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.*523_*535delGTACAAGTATGAC",
"hgvs_p": null,
"transcript": "ENST00000526341.6",
"protein_id": "ENSP00000515386.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2110,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.*10_*22delGTACAAGTATGAC",
"hgvs_p": null,
"transcript": "ENST00000527144.6",
"protein_id": "ENSP00000515403.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1920,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.453_465delGTACAAGTATGAC",
"hgvs_p": null,
"transcript": "ENST00000527653.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 856,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.*299_*311delGTACAAGTATGAC",
"hgvs_p": null,
"transcript": "ENST00000528073.6",
"protein_id": "ENSP00000435119.1",
"transcript_support_level": 3,
"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": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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"PP5"
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"verdict": "Likely_pathogenic",
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"effects": [
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],
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{
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"verdict": "Uncertain_significance",
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}
],
"clinvar_disease": "Glycosylphosphatidylinositol biosynthesis defect 15",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Glycosylphosphatidylinositol biosynthesis defect 15",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}