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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: 7-82170586-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=82170586&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 82170586,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000722.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "NM_000722.4",
"protein_id": "NP_000713.2",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1091,
"cds_start": 318,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 7542,
"mane_select": "ENST00000356860.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "ENST00000356860.8",
"protein_id": "ENSP00000349320.3",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 1091,
"cds_start": 318,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 7542,
"mane_select": "NM_000722.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "ENST00000423588.1",
"protein_id": "ENSP00000405395.1",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 309,
"cds_start": 318,
"cds_end": null,
"cds_length": 930,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "NM_001366867.1",
"protein_id": "NP_001353796.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1103,
"cds_start": 318,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "ENST00000443883.2",
"protein_id": "ENSP00000409374.2",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 1103,
"cds_start": 318,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Lys78Lys",
"transcript": "ENST00000705962.1",
"protein_id": "ENSP00000516190.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1051,
"cds_start": 234,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 5470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.99A>G",
"hgvs_p": "p.Lys33Lys",
"transcript": "ENST00000705961.1",
"protein_id": "ENSP00000516189.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1013,
"cds_start": 99,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 100,
"cdna_end": null,
"cdna_length": 6988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "NM_001302890.2",
"protein_id": "NP_001289819.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 309,
"cds_start": 318,
"cds_end": null,
"cds_length": 930,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_006716118.4",
"protein_id": "XP_006716181.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1110,
"cds_start": 318,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 7778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_011516570.4",
"protein_id": "XP_011514872.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1110,
"cds_start": 318,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_011516571.4",
"protein_id": "XP_011514873.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1105,
"cds_start": 318,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 7763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_047420819.1",
"protein_id": "XP_047276775.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1103,
"cds_start": 318,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_011516572.4",
"protein_id": "XP_011514874.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1098,
"cds_start": 318,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 7742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_005250572.4",
"protein_id": "XP_005250629.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1086,
"cds_start": 318,
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"cdna_start": 815,
"cdna_end": null,
"cdna_length": 7706,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_047420820.1",
"protein_id": "XP_047276776.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1086,
"cds_start": 318,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_005250573.4",
"protein_id": "XP_005250630.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1084,
"cds_start": 318,
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"cdna_start": 815,
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"cdna_length": 7700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_047420821.1",
"protein_id": "XP_047276777.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1084,
"cds_start": 318,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_005250574.4",
"protein_id": "XP_005250631.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1079,
"cds_start": 318,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 7685,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys",
"transcript": "XM_047420822.1",
"protein_id": "XP_047276778.1",
"transcript_support_level": null,
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"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.201A>G",
"hgvs_p": "p.Lys67Lys",
"transcript": "XM_006716120.4",
"protein_id": "XP_006716183.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1071,
"cds_start": 201,
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"cds_length": 3216,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 7324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "n.324A>G",
"hgvs_p": null,
"transcript": "ENST00000484706.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "n.815A>G",
"hgvs_p": null,
"transcript": "XR_001744873.3",
"protein_id": null,
"transcript_support_level": null,
"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": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"dbsnp": "rs757313687",
"frequency_reference_population": 0.000037827158,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.0000349179,
"gnomad_genomes_af": 0.0000657774,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"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,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.158,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_000722.4",
"gene_symbol": "CACNA2D1",
"hgnc_id": 1399,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Lys106Lys"
}
],
"clinvar_disease": "Brugada syndrome,Cardiovascular phenotype",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Brugada syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}