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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: 2-151839238-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151839238&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151839238,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000539935.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Arg482*",
"transcript": "NM_000726.5",
"protein_id": "NP_000717.2",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 520,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": "ENST00000539935.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Arg482*",
"transcript": "ENST00000539935.7",
"protein_id": "ENSP00000438949.1",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 520,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": "NM_000726.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448*",
"transcript": "ENST00000534999.7",
"protein_id": "ENSP00000443893.1",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 486,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 8074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "ENST00000201943.10",
"protein_id": "ENSP00000201943.5",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 458,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283228",
"gene_hgnc_id": null,
"hgvs_c": "n.*332+2665C>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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Arg464*",
"transcript": "NM_001005746.4",
"protein_id": "NP_001005746.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 502,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 7971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Arg464*",
"transcript": "ENST00000638005.1",
"protein_id": "ENSP00000489677.1",
"transcript_support_level": 2,
"aa_start": 464,
"aa_end": null,
"aa_length": 502,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.Arg452*",
"transcript": "ENST00000637762.1",
"protein_id": "ENSP00000489876.1",
"transcript_support_level": 5,
"aa_start": 452,
"aa_end": null,
"aa_length": 490,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448*",
"transcript": "NM_001005747.4",
"protein_id": "NP_001005747.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 486,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 8074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441*",
"transcript": "ENST00000427385.6",
"protein_id": "ENSP00000410978.2",
"transcript_support_level": 5,
"aa_start": 441,
"aa_end": null,
"aa_length": 479,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435*",
"transcript": "NM_001320722.3",
"protein_id": "NP_001307651.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 473,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 8234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435*",
"transcript": "NM_001330118.1",
"protein_id": "NP_001317047.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 473,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 8091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435*",
"transcript": "ENST00000439467.6",
"protein_id": "ENSP00000390161.2",
"transcript_support_level": 5,
"aa_start": 435,
"aa_end": null,
"aa_length": 473,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435*",
"transcript": "ENST00000636598.1",
"protein_id": "ENSP00000490247.1",
"transcript_support_level": 5,
"aa_start": 435,
"aa_end": null,
"aa_length": 473,
"cds_start": 1303,
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"cdna_start": 1538,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435*",
"transcript": "ENST00000637217.1",
"protein_id": "ENSP00000490250.1",
"transcript_support_level": 5,
"aa_start": 435,
"aa_end": null,
"aa_length": 473,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 8188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "ENST00000360283.11",
"protein_id": "ENSP00000353425.8",
"transcript_support_level": 5,
"aa_start": 434,
"aa_end": null,
"aa_length": 472,
"cds_start": 1300,
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"cdna_start": 1638,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1267C>T",
"hgvs_p": "p.Arg423*",
"transcript": "ENST00000636442.1",
"protein_id": "ENSP00000489779.1",
"transcript_support_level": 5,
"aa_start": 423,
"aa_end": null,
"aa_length": 461,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "NM_001145798.2",
"protein_id": "NP_001139270.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 458,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 7881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Arg414*",
"transcript": "ENST00000636350.1",
"protein_id": "ENSP00000489621.1",
"transcript_support_level": 5,
"aa_start": 414,
"aa_end": null,
"aa_length": 452,
"cds_start": 1240,
"cds_end": null,
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"cdna_start": 1325,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.Arg407*",
"transcript": "ENST00000637418.1",
"protein_id": "ENSP00000489679.1",
"transcript_support_level": 5,
"aa_start": 407,
"aa_end": null,
"aa_length": 445,
"cds_start": 1219,
"cds_end": null,
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"cdna_start": 1484,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000397327.7",
"protein_id": "ENSP00000380490.3",
"transcript_support_level": 5,
"aa_start": 403,
"aa_end": null,
"aa_length": 441,
"cds_start": 1207,
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"cds_length": 1326,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Arg401*",
"transcript": "NM_001330113.2",
"protein_id": "NP_001317042.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 439,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 7782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"transcript": "ENST00000638091.1",
"protein_id": "ENSP00000489967.1",
"transcript_support_level": 5,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000539935.7",
"gene_symbol": "CACNB4",
"hgnc_id": 1404,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Arg482*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000637559.1",
"gene_symbol": "ENSG00000283228",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*332+2665C>T",
"hgvs_p": null
}
],
"clinvar_disease": " 6, juvenile myoclonic, susceptibility to,Epilepsy",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Epilepsy, juvenile myoclonic, susceptibility to, 6",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}