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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: 17-68522767-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68522767&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68522767,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000589228.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "NM_002734.5",
"protein_id": "NP_002725.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": "ENST00000589228.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000589228.6",
"protein_id": "ENSP00000464977.2",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": "NM_002734.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000358598.6",
"protein_id": "ENSP00000351410.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000536854.6",
"protein_id": "ENSP00000445625.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000586397.5",
"protein_id": "ENSP00000466459.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "NM_001276289.2",
"protein_id": "NP_001263218.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "NM_001278433.2",
"protein_id": "NP_001265362.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "NM_001369389.1",
"protein_id": "NP_001356318.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "NM_001369390.1",
"protein_id": "NP_001356319.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "NM_212471.3",
"protein_id": "NP_997636.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "NM_212472.2",
"protein_id": "NP_997637.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000392711.5",
"protein_id": "ENSP00000376475.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000585427.6",
"protein_id": "ENSP00000464715.2",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000588178.6",
"protein_id": "ENSP00000465013.2",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000589017.6",
"protein_id": "ENSP00000465445.2",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000589480.6",
"protein_id": "ENSP00000466649.2",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 381,
"cds_start": 189,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000592800.6",
"protein_id": "ENSP00000466314.2",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 349,
"cds_start": 189,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "NM_001276290.1",
"protein_id": "NP_001263219.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 337,
"cds_start": 189,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000585981.6",
"protein_id": "ENSP00000467311.2",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 337,
"cds_start": 189,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000588188.7",
"protein_id": "ENSP00000468106.2",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 337,
"cds_start": 189,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000711037.1",
"protein_id": "ENSP00000518555.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 337,
"cds_start": 189,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "ENST00000585815.5",
"protein_id": "ENSP00000467867.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 64,
"cds_start": 189,
"cds_end": null,
"cds_length": 196,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Lys63Lys",
"transcript": "XM_011524984.4",
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],
"gene_symbol": "PRKAR1A",
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"dbsnp": "rs1060504126",
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"computational_score_selected": -0.28999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.89,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000589228.6",
"gene_symbol": "PRKAR1A",
"hgnc_id": 9388,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.189A>G",
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},
{
"score": -8,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000590353.1",
"gene_symbol": "ENSG00000267009",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.368A>G",
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}
],
"clinvar_disease": " type 1,Carney complex,Hereditary cancer-predisposing syndrome,PRKAR1A-related disorder,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Carney complex, type 1|Hereditary cancer-predisposing syndrome|PRKAR1A-related disorder|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}