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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: 7-151565804-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151565804&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151565804,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001407021.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Ile439Val",
"transcript": "NM_016203.4",
"protein_id": "NP_057287.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 569,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "ENST00000287878.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016203.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Ile439Val",
"transcript": "ENST00000287878.9",
"protein_id": "ENSP00000287878.3",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 569,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "NM_016203.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287878.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Ile395Val",
"transcript": "ENST00000392801.6",
"protein_id": "ENSP00000376549.2",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 525,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392801.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Ile198Val",
"transcript": "ENST00000418337.6",
"protein_id": "ENSP00000387386.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 328,
"cds_start": 592,
"cds_end": null,
"cds_length": 987,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418337.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Ile439Val",
"transcript": "NM_001407021.1",
"protein_id": "NP_001393950.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 619,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 6570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407021.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Ile438Val",
"transcript": "NM_001407022.1",
"protein_id": "NP_001393951.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 618,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 6567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407022.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Ile438Val",
"transcript": "NM_001407023.1",
"protein_id": "NP_001393952.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 568,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407023.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Ile438Val",
"transcript": "ENST00000652321.2",
"protein_id": "ENSP00000498886.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 568,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652321.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "ENST00000867883.1",
"protein_id": "ENSP00000537942.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 567,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867883.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Ile436Val",
"transcript": "ENST00000867885.1",
"protein_id": "ENSP00000537944.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 566,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867885.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Ile395Val",
"transcript": "NM_001040633.2",
"protein_id": "NP_001035723.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 525,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040633.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Ile395Val",
"transcript": "NM_001407024.1",
"protein_id": "NP_001393953.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 525,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407024.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Ile395Val",
"transcript": "ENST00000651764.1",
"protein_id": "ENSP00000498796.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 525,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651764.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Ile395Val",
"transcript": "ENST00000652159.1",
"protein_id": "ENSP00000499025.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 525,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652159.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1180A>G",
"hgvs_p": "p.Ile394Val",
"transcript": "NM_001407026.1",
"protein_id": "NP_001393955.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 524,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407026.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1180A>G",
"hgvs_p": "p.Ile394Val",
"transcript": "NM_001407027.1",
"protein_id": "NP_001393956.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 524,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407027.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1180A>G",
"hgvs_p": "p.Ile394Val",
"transcript": "ENST00000652047.1",
"protein_id": "ENSP00000499111.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 524,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652047.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Ile392Val",
"transcript": "ENST00000867884.1",
"protein_id": "ENSP00000537943.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 522,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867884.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Ile315Val",
"transcript": "NM_001407028.1",
"protein_id": "NP_001393957.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 495,
"cds_start": 943,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407028.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Ile314Val",
"transcript": "NM_001407029.1",
"protein_id": "NP_001393958.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 494,
"cds_start": 940,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407029.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ile343Val",
"transcript": "NM_001407030.1",
"protein_id": "NP_001393959.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 473,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407030.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "NM_001407031.1",
"protein_id": "NP_001393960.1",
"transcript_support_level": null,
"aa_start": 342,
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{
"score": -6,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "not specified|not provided|Lethal congenital glycogen storage disease of heart|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 6",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}