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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: 3-50364749-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50364749&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CACNA2D2",
"hgnc_id": 1400,
"hgvs_c": "c.3370G>A",
"hgvs_p": "p.Val1124Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001174051.3",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000272104",
"hgnc_id": null,
"hgvs_c": "c.128-1548C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000606589.1",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC127898564",
"hgnc_id": null,
"hgvs_c": "n.276-1548C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "NR_111912.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 10007,
"alphamissense_prediction": null,
"alphamissense_score": 0.0741,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "3",
"clinvar_classification": "Benign",
"clinvar_disease": "Developmental and epileptic encephalopathy,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.001369386911392212,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "V",
"aa_start": 1117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5696,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3349,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_006030.4",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3349G>A",
"hgvs_p": "p.Val1117Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424201.7",
"protein_coding": true,
"protein_id": "NP_006021.2",
"strand": false,
"transcript": "NM_006030.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "V",
"aa_start": 1117,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5696,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3349,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000424201.7",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3349G>A",
"hgvs_p": "p.Val1117Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006030.4",
"protein_coding": true,
"protein_id": "ENSP00000390329.2",
"strand": false,
"transcript": "ENST00000424201.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "V",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5329,
"cdna_start": 3379,
"cds_end": null,
"cds_length": 3462,
"cds_start": 3379,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000423994.6",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3379G>A",
"hgvs_p": "p.Val1127Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407393.2",
"strand": false,
"transcript": "ENST00000423994.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "V",
"aa_start": 1124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3453,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3370,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000479441.1",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3370G>A",
"hgvs_p": "p.Val1124Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418081.1",
"strand": false,
"transcript": "ENST00000479441.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "V",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5476,
"cdna_start": 3529,
"cds_end": null,
"cds_length": 3438,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000266039.7",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3355G>A",
"hgvs_p": "p.Val1119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000266039.3",
"strand": false,
"transcript": "ENST00000266039.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "V",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5272,
"cdna_start": 3325,
"cds_end": null,
"cds_length": 3231,
"cds_start": 3148,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000360963.7",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3148G>A",
"hgvs_p": "p.Val1050Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354228.3",
"strand": false,
"transcript": "ENST00000360963.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 50,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 408,
"cdna_start": null,
"cds_end": null,
"cds_length": 153,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000606589.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000272104",
"hgvs_c": "c.128-1548C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476225.1",
"strand": true,
"transcript": "ENST00000606589.1",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "V",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5353,
"cdna_start": 3406,
"cds_end": null,
"cds_length": 3474,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000941197.1",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Val1131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611256.1",
"strand": false,
"transcript": "ENST00000941197.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "V",
"aa_start": 1126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5446,
"cdna_start": 3585,
"cds_end": null,
"cds_length": 3459,
"cds_start": 3376,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000940542.1",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3376G>A",
"hgvs_p": "p.Val1126Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610601.1",
"strand": false,
"transcript": "ENST00000940542.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "V",
"aa_start": 1126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 3466,
"cds_end": null,
"cds_length": 3459,
"cds_start": 3376,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000941198.1",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3376G>A",
"hgvs_p": "p.Val1126Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611257.1",
"strand": false,
"transcript": "ENST00000941198.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "V",
"aa_start": 1124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5717,
"cdna_start": 3581,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3370,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001174051.3",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3370G>A",
"hgvs_p": "p.Val1124Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167522.1",
"strand": false,
"transcript": "NM_001174051.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "V",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5619,
"cdna_start": 3669,
"cds_end": null,
"cds_length": 3441,
"cds_start": 3358,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000940541.1",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3358G>A",
"hgvs_p": "p.Val1120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610600.1",
"strand": false,
"transcript": "ENST00000940541.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "V",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5702,
"cdna_start": 3566,
"cds_end": null,
"cds_length": 3438,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001005505.3",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3355G>A",
"hgvs_p": "p.Val1119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005505.1",
"strand": false,
"transcript": "NM_001005505.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "V",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5699,
"cdna_start": 3563,
"cds_end": null,
"cds_length": 3435,
"cds_start": 3352,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001410768.1",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3352G>A",
"hgvs_p": "p.Val1118Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397697.1",
"strand": false,
"transcript": "NM_001410768.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "V",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 3357,
"cds_end": null,
"cds_length": 3435,
"cds_start": 3352,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000429770.5",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3352G>A",
"hgvs_p": "p.Val1118Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404631.1",
"strand": false,
"transcript": "ENST00000429770.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "V",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 3325,
"cds_end": null,
"cds_length": 3231,
"cds_start": 3148,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001291101.1",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3148G>A",
"hgvs_p": "p.Val1050Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278030.1",
"strand": false,
"transcript": "NM_001291101.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "V",
"aa_start": 1125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5720,
"cdna_start": 3584,
"cds_end": null,
"cds_length": 3456,
"cds_start": 3373,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_011534243.3",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "c.3373G>A",
"hgvs_p": "p.Val1125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532545.1",
"strand": false,
"transcript": "XM_011534243.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000483620.1",
"gene_hgnc_id": 1400,
"gene_symbol": "CACNA2D2",
"hgvs_c": "n.632G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000483620.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 712,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_111912.2",
"gene_hgnc_id": null,
"gene_symbol": "LOC127898564",
"hgvs_c": "n.276-1548C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_111912.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1271,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_183066.1",
"gene_hgnc_id": null,
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}