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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: 2-151839371-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151839371&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CACNB4",
"hgnc_id": 1404,
"hgvs_c": "c.1310_1311delGAinsAG",
"hgvs_p": "p.Arg437Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000726.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000283228",
"hgnc_id": null,
"hgvs_c": "n.*332+2531_*332+2532delGAinsAG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000637559.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "R",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7944,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000726.5",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1310_1311delGAinsAG",
"hgvs_p": "p.Arg437Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000539935.7",
"protein_coding": true,
"protein_id": "NP_000717.2",
"strand": false,
"transcript": "NM_000726.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "R",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7944,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539935.7",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1310_1311delGAinsAG",
"hgvs_p": "p.Arg437Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000726.5",
"protein_coding": true,
"protein_id": "ENSP00000438949.1",
"strand": false,
"transcript": "ENST00000539935.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8074,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534999.7",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1208_1209delGAinsAG",
"hgvs_p": "p.Arg403Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443893.1",
"strand": false,
"transcript": "ENST00000534999.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 458,
"aa_ref": "R",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000201943.10",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1124_1125delGAinsAG",
"hgvs_p": "p.Arg375Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000201943.5",
"strand": false,
"transcript": "ENST00000201943.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637559.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283228",
"hgvs_c": "n.*332+2531_*332+2532delGAinsAG",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489697.1",
"strand": false,
"transcript": "ENST00000637559.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7971,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001005746.4",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1256_1257delGAinsAG",
"hgvs_p": "p.Arg419Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005746.1",
"strand": false,
"transcript": "NM_001005746.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4615,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638005.1",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1256_1257delGAinsAG",
"hgvs_p": "p.Arg419Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489677.1",
"strand": false,
"transcript": "ENST00000638005.1",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3800,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1220,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637762.1",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1220_1221delGAinsAG",
"hgvs_p": "p.Arg407Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489876.1",
"strand": false,
"transcript": "ENST00000637762.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8074,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001005747.4",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1208_1209delGAinsAG",
"hgvs_p": "p.Arg403Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005747.1",
"strand": false,
"transcript": "NM_001005747.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 479,
"aa_ref": "R",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427385.6",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1187_1188delGAinsAG",
"hgvs_p": "p.Arg396Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410978.2",
"strand": false,
"transcript": "ENST00000427385.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8234,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1169,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320722.3",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1169_1170delGAinsAG",
"hgvs_p": "p.Arg390Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307651.1",
"strand": false,
"transcript": "NM_001320722.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8091,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1169,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330118.1",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1169_1170delGAinsAG",
"hgvs_p": "p.Arg390Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317047.1",
"strand": false,
"transcript": "NM_001330118.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 473,
"aa_ref": "R",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1169,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439467.6",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1169_1170delGAinsAG",
"hgvs_p": "p.Arg390Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390161.2",
"strand": false,
"transcript": "ENST00000439467.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7808,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1169,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636598.1",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1169_1170delGAinsAG",
"hgvs_p": "p.Arg390Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490247.1",
"strand": false,
"transcript": "ENST00000636598.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8188,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1169,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637217.1",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1169_1170delGAinsAG",
"hgvs_p": "p.Arg390Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490250.1",
"strand": false,
"transcript": "ENST00000637217.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360283.11",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1166_1167delGAinsAG",
"hgvs_p": "p.Arg389Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353425.8",
"strand": false,
"transcript": "ENST00000360283.11",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
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"aa_length": 461,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4232,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636442.1",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1133_1134delGAinsAG",
"hgvs_p": "p.Arg378Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489779.1",
"strand": false,
"transcript": "ENST00000636442.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 458,
"aa_ref": "R",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7881,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145798.2",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1124_1125delGAinsAG",
"hgvs_p": "p.Arg375Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139270.1",
"strand": false,
"transcript": "NM_001145798.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7654,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1106,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636350.1",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1106_1107delGAinsAG",
"hgvs_p": "p.Arg369Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489621.1",
"strand": false,
"transcript": "ENST00000636350.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1085,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637418.1",
"gene_hgnc_id": 1404,
"gene_symbol": "CACNB4",
"hgvs_c": "c.1085_1086delGAinsAG",
"hgvs_p": "p.Arg362Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489679.1",
"strand": false,
"transcript": "ENST00000637418.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 441,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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