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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: 2-151880875-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151880875&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151880875,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000539935.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Gly105Gly",
"transcript": "NM_000726.5",
"protein_id": "NP_000717.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 520,
"cds_start": 315,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": "ENST00000539935.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Gly105Gly",
"transcript": "ENST00000539935.7",
"protein_id": "ENSP00000438949.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 520,
"cds_start": 315,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": "NM_000726.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"transcript": "ENST00000534999.7",
"protein_id": "ENSP00000443893.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 486,
"cds_start": 213,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 8074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Gly105Gly",
"transcript": "ENST00000201943.10",
"protein_id": "ENSP00000201943.5",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 458,
"cds_start": 315,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"transcript": "ENST00000636947.1",
"protein_id": "ENSP00000490337.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 307,
"cds_start": 213,
"cds_end": null,
"cds_length": 924,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283228",
"gene_hgnc_id": null,
"hgvs_c": "n.213C>T",
"hgvs_p": null,
"transcript": "ENST00000637559.1",
"protein_id": "ENSP00000489697.1",
"transcript_support_level": 5,
"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": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Gly87Gly",
"transcript": "NM_001005746.4",
"protein_id": "NP_001005746.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 502,
"cds_start": 261,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 7971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Gly87Gly",
"transcript": "ENST00000638005.1",
"protein_id": "ENSP00000489677.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 502,
"cds_start": 261,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Gly58Gly",
"transcript": "ENST00000637762.1",
"protein_id": "ENSP00000489876.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 490,
"cds_start": 174,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"transcript": "NM_001005747.4",
"protein_id": "NP_001005747.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 486,
"cds_start": 213,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 8074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Gly58Gly",
"transcript": "NM_001320722.3",
"protein_id": "NP_001307651.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 473,
"cds_start": 174,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 8234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Gly58Gly",
"transcript": "NM_001330118.1",
"protein_id": "NP_001317047.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 473,
"cds_start": 174,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 8091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Gly58Gly",
"transcript": "ENST00000439467.6",
"protein_id": "ENSP00000390161.2",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 473,
"cds_start": 174,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Gly58Gly",
"transcript": "ENST00000636598.1",
"protein_id": "ENSP00000490247.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 473,
"cds_start": 174,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 7808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Gly58Gly",
"transcript": "ENST00000637217.1",
"protein_id": "ENSP00000490250.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 473,
"cds_start": 174,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 8188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"transcript": "ENST00000360283.11",
"protein_id": "ENSP00000353425.8",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 472,
"cds_start": 213,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Gly105Gly",
"transcript": "NM_001145798.2",
"protein_id": "NP_001139270.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 458,
"cds_start": 315,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 7881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Gly58Gly",
"transcript": "ENST00000397327.7",
"protein_id": "ENSP00000380490.3",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 441,
"cds_start": 174,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Gly87Gly",
"transcript": "NM_001330113.2",
"protein_id": "NP_001317042.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 439,
"cds_start": 261,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 7782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"transcript": "ENST00000638091.1",
"protein_id": "ENSP00000489967.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 424,
"cds_start": 213,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"transcript": "NM_001330115.2",
"protein_id": "NP_001317044.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 423,
"cds_start": 213,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 7885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"transcript": "ENST00000637779.1",
"protein_id": "ENSP00000489732.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 423,
"cds_start": 213,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Gly58Gly",
"transcript": "ENST00000636130.1",
"protein_id": "ENSP00000490607.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 411,
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"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.32,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000539935.7",
"gene_symbol": "CACNB4",
"hgnc_id": 1404,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Gly105Gly"
},
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000637559.1",
"gene_symbol": "ENSG00000283228",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.213C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Idiopathic generalized epilepsy,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|Idiopathic generalized epilepsy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}