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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: 7-151574903-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151574903&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151574903,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000287878.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.993T>C",
"hgvs_p": "p.Tyr331Tyr",
"transcript": "NM_016203.4",
"protein_id": "NP_057287.2",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 569,
"cds_start": 993,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "ENST00000287878.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.993T>C",
"hgvs_p": "p.Tyr331Tyr",
"transcript": "ENST00000287878.9",
"protein_id": "ENSP00000287878.3",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 569,
"cds_start": 993,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "NM_016203.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.861T>C",
"hgvs_p": "p.Tyr287Tyr",
"transcript": "ENST00000392801.6",
"protein_id": "ENSP00000376549.2",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 525,
"cds_start": 861,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.270T>C",
"hgvs_p": "p.Tyr90Tyr",
"transcript": "ENST00000418337.6",
"protein_id": "ENSP00000387386.2",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 328,
"cds_start": 270,
"cds_end": null,
"cds_length": 987,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "n.*233T>C",
"hgvs_p": null,
"transcript": "ENST00000488258.5",
"protein_id": "ENSP00000420783.1",
"transcript_support_level": 1,
"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": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "n.*233T>C",
"hgvs_p": null,
"transcript": "ENST00000488258.5",
"protein_id": "ENSP00000420783.1",
"transcript_support_level": 1,
"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": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.993T>C",
"hgvs_p": "p.Tyr331Tyr",
"transcript": "NM_001407021.1",
"protein_id": "NP_001393950.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 619,
"cds_start": 993,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 6570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.990T>C",
"hgvs_p": "p.Tyr330Tyr",
"transcript": "NM_001407022.1",
"protein_id": "NP_001393951.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 618,
"cds_start": 990,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 6567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.990T>C",
"hgvs_p": "p.Tyr330Tyr",
"transcript": "NM_001407023.1",
"protein_id": "NP_001393952.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 568,
"cds_start": 990,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.990T>C",
"hgvs_p": "p.Tyr330Tyr",
"transcript": "ENST00000652321.2",
"protein_id": "ENSP00000498886.2",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 568,
"cds_start": 990,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.861T>C",
"hgvs_p": "p.Tyr287Tyr",
"transcript": "NM_001040633.2",
"protein_id": "NP_001035723.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 525,
"cds_start": 861,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.861T>C",
"hgvs_p": "p.Tyr287Tyr",
"transcript": "NM_001407024.1",
"protein_id": "NP_001393953.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 525,
"cds_start": 861,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.861T>C",
"hgvs_p": "p.Tyr287Tyr",
"transcript": "ENST00000651764.1",
"protein_id": "ENSP00000498796.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 525,
"cds_start": 861,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.861T>C",
"hgvs_p": "p.Tyr287Tyr",
"transcript": "ENST00000652159.1",
"protein_id": "ENSP00000499025.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 525,
"cds_start": 861,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Tyr286Tyr",
"transcript": "NM_001407026.1",
"protein_id": "NP_001393955.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 524,
"cds_start": 858,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Tyr286Tyr",
"transcript": "NM_001407027.1",
"protein_id": "NP_001393956.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 524,
"cds_start": 858,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Tyr286Tyr",
"transcript": "ENST00000652047.1",
"protein_id": "ENSP00000499111.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 524,
"cds_start": 858,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Tyr207Tyr",
"transcript": "NM_001407028.1",
"protein_id": "NP_001393957.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 495,
"cds_start": 621,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Tyr206Tyr",
"transcript": "NM_001407029.1",
"protein_id": "NP_001393958.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 494,
"cds_start": 618,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "NM_001407030.1",
"protein_id": "NP_001393959.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 473,
"cds_start": 705,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.702T>C",
"hgvs_p": "p.Tyr234Tyr",
"transcript": "NM_001407031.1",
"protein_id": "NP_001393960.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 472,
"cds_start": 702,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Tyr225Tyr",
"transcript": "NM_001407032.1",
"protein_id": "NP_001393961.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 463,
"cds_start": 675,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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"inheritance_mode": "AD",
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:7",
"phenotype_combined": "not specified|Cardiomyopathy|not provided|Cardiovascular phenotype|Lethal congenital glycogen storage disease of heart|Hypertrophic cardiomyopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}