← Back to variant description
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: 3-50364912-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50364912&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50364912,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001174051.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3267C>A",
"hgvs_p": "p.His1089Gln",
"transcript": "NM_006030.4",
"protein_id": "NP_006021.2",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3267,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424201.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006030.4"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3267C>A",
"hgvs_p": "p.His1089Gln",
"transcript": "ENST00000424201.7",
"protein_id": "ENSP00000390329.2",
"transcript_support_level": 1,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3267,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006030.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424201.7"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3297C>A",
"hgvs_p": "p.His1099Gln",
"transcript": "ENST00000423994.6",
"protein_id": "ENSP00000407393.2",
"transcript_support_level": 5,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3297,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423994.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3288C>A",
"hgvs_p": "p.His1096Gln",
"transcript": "ENST00000479441.1",
"protein_id": "ENSP00000418081.1",
"transcript_support_level": 1,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3288,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479441.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3273C>A",
"hgvs_p": "p.His1091Gln",
"transcript": "ENST00000266039.7",
"protein_id": "ENSP00000266039.3",
"transcript_support_level": 1,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3273,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266039.7"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3066C>A",
"hgvs_p": "p.His1022Gln",
"transcript": "ENST00000360963.7",
"protein_id": "ENSP00000354228.3",
"transcript_support_level": 1,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3066,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360963.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272104",
"gene_hgnc_id": null,
"hgvs_c": "c.128-1385G>T",
"hgvs_p": null,
"transcript": "ENST00000606589.1",
"protein_id": "ENSP00000476225.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": null,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606589.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3309C>A",
"hgvs_p": "p.His1103Gln",
"transcript": "ENST00000941197.1",
"protein_id": "ENSP00000611256.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3309,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941197.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3294C>A",
"hgvs_p": "p.His1098Gln",
"transcript": "ENST00000940542.1",
"protein_id": "ENSP00000610601.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940542.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3294C>A",
"hgvs_p": "p.His1098Gln",
"transcript": "ENST00000941198.1",
"protein_id": "ENSP00000611257.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941198.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3288C>A",
"hgvs_p": "p.His1096Gln",
"transcript": "NM_001174051.3",
"protein_id": "NP_001167522.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3288,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174051.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3276C>A",
"hgvs_p": "p.His1092Gln",
"transcript": "ENST00000940541.1",
"protein_id": "ENSP00000610600.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3276,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940541.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3273C>A",
"hgvs_p": "p.His1091Gln",
"transcript": "NM_001005505.3",
"protein_id": "NP_001005505.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3273,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005505.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.His1090Gln",
"transcript": "NM_001410768.1",
"protein_id": "NP_001397697.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3270,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410768.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.His1090Gln",
"transcript": "ENST00000429770.5",
"protein_id": "ENSP00000404631.1",
"transcript_support_level": 5,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3270,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429770.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3066C>A",
"hgvs_p": "p.His1022Gln",
"transcript": "NM_001291101.1",
"protein_id": "NP_001278030.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3066,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291101.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3291C>A",
"hgvs_p": "p.His1097Gln",
"transcript": "XM_011534243.3",
"protein_id": "XP_011532545.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534243.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "n.550C>A",
"hgvs_p": null,
"transcript": "ENST00000483620.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000483620.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC127898564",
"gene_hgnc_id": null,
"hgvs_c": "n.276-1385G>T",
"hgvs_p": null,
"transcript": "NR_111912.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_111912.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC127898564",
"gene_hgnc_id": null,
"hgvs_c": "n.835-1385G>T",
"hgvs_p": null,
"transcript": "NR_183066.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_183066.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC127898564",
"gene_hgnc_id": null,
"hgvs_c": "n.390-1385G>T",
"hgvs_p": null,
"transcript": "NR_183067.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_183067.1"
}
],
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"dbsnp": "rs781660163",
"frequency_reference_population": 0.00012706859,
"hom_count_reference_population": 0,
"allele_count_reference_population": 205,
"gnomad_exomes_af": 0.000132778,
"gnomad_genomes_af": 0.0000722648,
"gnomad_exomes_ac": 194,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2570546567440033,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.0933,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.973,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "NM_001174051.3",
"gene_symbol": "CACNA2D2",
"hgnc_id": 1400,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3288C>A",
"hgvs_p": "p.His1096Gln"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000606589.1",
"gene_symbol": "ENSG00000272104",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.128-1385G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_111912.2",
"gene_symbol": "LOC127898564",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.276-1385G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}