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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: 7-81968949-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=81968949&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 81968949,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000356860.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Ser778Leu",
"transcript": "NM_000722.4",
"protein_id": "NP_000713.2",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2651,
"cdna_end": null,
"cdna_length": 7542,
"mane_select": "ENST00000356860.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Ser778Leu",
"transcript": "ENST00000356860.8",
"protein_id": "ENSP00000349320.3",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2651,
"cdna_end": null,
"cdna_length": 7542,
"mane_select": "NM_000722.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2369C>T",
"hgvs_p": "p.Ser790Leu",
"transcript": "NM_001366867.1",
"protein_id": "NP_001353796.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2369,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2866,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2369C>T",
"hgvs_p": "p.Ser790Leu",
"transcript": "ENST00000443883.2",
"protein_id": "ENSP00000409374.2",
"transcript_support_level": 5,
"aa_start": 790,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2369,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2866,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2213C>T",
"hgvs_p": "p.Ser738Leu",
"transcript": "ENST00000705962.1",
"protein_id": "ENSP00000516190.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2213,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 5470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2099C>T",
"hgvs_p": "p.Ser700Leu",
"transcript": "ENST00000705961.1",
"protein_id": "ENSP00000516189.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 6988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2390C>T",
"hgvs_p": "p.Ser797Leu",
"transcript": "XM_006716118.4",
"protein_id": "XP_006716181.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2390,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 7778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2390C>T",
"hgvs_p": "p.Ser797Leu",
"transcript": "XM_011516570.4",
"protein_id": "XP_011514872.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2390,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2375C>T",
"hgvs_p": "p.Ser792Leu",
"transcript": "XM_011516571.4",
"protein_id": "XP_011514873.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2375,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 7763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2369C>T",
"hgvs_p": "p.Ser790Leu",
"transcript": "XM_047420819.1",
"protein_id": "XP_047276775.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2369,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2866,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2354C>T",
"hgvs_p": "p.Ser785Leu",
"transcript": "XM_011516572.4",
"protein_id": "XP_011514874.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2354,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 7742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2318C>T",
"hgvs_p": "p.Ser773Leu",
"transcript": "XM_005250572.4",
"protein_id": "XP_005250629.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2318,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2815,
"cdna_end": null,
"cdna_length": 7706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2318C>T",
"hgvs_p": "p.Ser773Leu",
"transcript": "XM_047420820.1",
"protein_id": "XP_047276776.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2318,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2815,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2312C>T",
"hgvs_p": "p.Ser771Leu",
"transcript": "XM_005250573.4",
"protein_id": "XP_005250630.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2312,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 2809,
"cdna_end": null,
"cdna_length": 7700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2312C>T",
"hgvs_p": "p.Ser771Leu",
"transcript": "XM_047420821.1",
"protein_id": "XP_047276777.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2312,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 2809,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2297C>T",
"hgvs_p": "p.Ser766Leu",
"transcript": "XM_005250574.4",
"protein_id": "XP_005250631.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2297,
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"cds_length": 3240,
"cdna_start": 2794,
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"cdna_length": 7685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2297C>T",
"hgvs_p": "p.Ser766Leu",
"transcript": "XM_047420822.1",
"protein_id": "XP_047276778.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2297,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 2794,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2273C>T",
"hgvs_p": "p.Ser758Leu",
"transcript": "XM_006716120.4",
"protein_id": "XP_006716183.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2273,
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"cds_length": 3216,
"cdna_start": 2433,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ser267Leu",
"transcript": "XM_006716121.3",
"protein_id": "XP_006716184.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 580,
"cds_start": 800,
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"cdna_start": 1695,
"cdna_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "n.416-1286C>T",
"hgvs_p": null,
"transcript": "ENST00000486539.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 526,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "n.2759-1286C>T",
"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": "rs202108848",
"frequency_reference_population": 0.000073023024,
"hom_count_reference_population": 0,
"allele_count_reference_population": 116,
"gnomad_exomes_af": 0.0000723032,
"gnomad_genomes_af": 0.000079919,
"gnomad_exomes_ac": 104,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17730668187141418,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.213,
"revel_prediction": "Benign",
"alphamissense_score": 0.1384,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.003,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000356860.8",
"gene_symbol": "CACNA2D1",
"hgnc_id": 1399,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Ser778Leu"
}
],
"clinvar_disease": "Brugada syndrome,Cardiovascular phenotype,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Cardiovascular phenotype|not provided|Brugada syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}