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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: 7-151560609-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151560609&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151560609,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001407021.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Arg531Arg",
"transcript": "NM_016203.4",
"protein_id": "NP_057287.2",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 569,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287878.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016203.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Arg531Arg",
"transcript": "ENST00000287878.9",
"protein_id": "ENSP00000287878.3",
"transcript_support_level": 1,
"aa_start": 531,
"aa_end": null,
"aa_length": 569,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016203.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287878.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1461G>A",
"hgvs_p": "p.Arg487Arg",
"transcript": "ENST00000392801.6",
"protein_id": "ENSP00000376549.2",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 525,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392801.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.870G>A",
"hgvs_p": "p.Arg290Arg",
"transcript": "ENST00000418337.6",
"protein_id": "ENSP00000387386.2",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 328,
"cds_start": 870,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418337.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Arg531Arg",
"transcript": "NM_001407021.1",
"protein_id": "NP_001393950.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 619,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407021.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Arg530Arg",
"transcript": "NM_001407022.1",
"protein_id": "NP_001393951.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 618,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407022.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Arg530Arg",
"transcript": "NM_001407023.1",
"protein_id": "NP_001393952.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 568,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407023.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Arg530Arg",
"transcript": "ENST00000652321.2",
"protein_id": "ENSP00000498886.2",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 568,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652321.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1587G>A",
"hgvs_p": "p.Arg529Arg",
"transcript": "ENST00000867883.1",
"protein_id": "ENSP00000537942.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 567,
"cds_start": 1587,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867883.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1584G>A",
"hgvs_p": "p.Arg528Arg",
"transcript": "ENST00000867885.1",
"protein_id": "ENSP00000537944.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 566,
"cds_start": 1584,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867885.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1461G>A",
"hgvs_p": "p.Arg487Arg",
"transcript": "NM_001040633.2",
"protein_id": "NP_001035723.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 525,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040633.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1461G>A",
"hgvs_p": "p.Arg487Arg",
"transcript": "NM_001407024.1",
"protein_id": "NP_001393953.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 525,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407024.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1461G>A",
"hgvs_p": "p.Arg487Arg",
"transcript": "ENST00000651764.1",
"protein_id": "ENSP00000498796.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 525,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651764.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1461G>A",
"hgvs_p": "p.Arg487Arg",
"transcript": "ENST00000652159.1",
"protein_id": "ENSP00000499025.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 525,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652159.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1458G>A",
"hgvs_p": "p.Arg486Arg",
"transcript": "NM_001407026.1",
"protein_id": "NP_001393955.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 524,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407026.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1458G>A",
"hgvs_p": "p.Arg486Arg",
"transcript": "NM_001407027.1",
"protein_id": "NP_001393956.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 524,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407027.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1458G>A",
"hgvs_p": "p.Arg486Arg",
"transcript": "ENST00000652047.1",
"protein_id": "ENSP00000499111.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 524,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652047.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Arg484Arg",
"transcript": "ENST00000867884.1",
"protein_id": "ENSP00000537943.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 522,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867884.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1221G>A",
"hgvs_p": "p.Arg407Arg",
"transcript": "NM_001407028.1",
"protein_id": "NP_001393957.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 495,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407028.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1218G>A",
"hgvs_p": "p.Arg406Arg",
"transcript": "NM_001407029.1",
"protein_id": "NP_001393958.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 494,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407029.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Arg435Arg",
"transcript": "NM_001407030.1",
"protein_id": "NP_001393959.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 473,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407030.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1302G>A",
"hgvs_p": "p.Arg434Arg",
"transcript": "NM_001407031.1",
"protein_id": "NP_001393960.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 472,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
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"phylop100way_prediction": "Benign",
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"benign_score": 19,
"pathogenic_score": 0,
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"verdict": "Benign",
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],
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],
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:7 B:8",
"phenotype_combined": "Cardiomyopathy|not specified|Cardiovascular phenotype|Wolff-Parkinson-White pattern|Lethal congenital glycogen storage disease of heart|Hypertrophic cardiomyopathy 6|not provided|Hypertrophic cardiomyopathy",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}