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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: 12-2584605-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2584605&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CACNA1C",
"hgnc_id": 1390,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_199460.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 21,
"alphamissense_prediction": null,
"alphamissense_score": 0.1518,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,Long QT syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000002765186081887805,
"computational_source_selected": "CardioboostArm",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 6417,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_000719.7",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399655.6",
"protein_coding": true,
"protein_id": "NP_000710.5",
"strand": true,
"transcript": "NM_000719.7",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 6417,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001167623.2",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000399603.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161095.1",
"strand": true,
"transcript": "NM_001167623.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 6417,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000399603.6",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001167623.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382512.1",
"strand": true,
"transcript": "ENST00000399603.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13744,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 6417,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000399655.6",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000719.7",
"protein_coding": true,
"protein_id": "ENSP00000382563.1",
"strand": true,
"transcript": "ENST00000399655.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2251,
"aa_ref": "K",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7047,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 6756,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000682544.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Lys806Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507184.1",
"strand": true,
"transcript": "ENST00000682544.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2209,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8166,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 6630,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000406454.8",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385896.3",
"strand": true,
"transcript": "ENST00000406454.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2198,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8133,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 6597,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000399634.6",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382542.2",
"strand": true,
"transcript": "ENST00000399634.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2193,
"aa_ref": "K",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 6582,
"cds_start": 2492,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000683824.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2492A>G",
"hgvs_p": "p.Lys831Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507867.1",
"strand": true,
"transcript": "ENST00000683824.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2186,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13888,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 6561,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000347598.9",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000266376.6",
"strand": true,
"transcript": "ENST00000347598.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6634,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 6540,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000344100.7",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341092.3",
"strand": true,
"transcript": "ENST00000344100.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2173,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13849,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 6522,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000327702.12",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329877.7",
"strand": true,
"transcript": "ENST00000327702.12",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2173,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7719,
"cdna_start": 2564,
"cds_end": null,
"cds_length": 6522,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000399617.6",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382526.1",
"strand": true,
"transcript": "ENST00000399617.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "K",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7059,
"cdna_start": 2605,
"cds_end": null,
"cds_length": 6507,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000682462.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Lys806Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507105.1",
"strand": true,
"transcript": "ENST00000682462.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "K",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6750,
"cdna_start": 2605,
"cds_end": null,
"cds_length": 6507,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683781.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Lys806Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507434.1",
"strand": true,
"transcript": "ENST00000683781.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "K",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6553,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 6507,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683840.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Lys806Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507612.1",
"strand": true,
"transcript": "ENST00000683840.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2168,
"aa_ref": "K",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6553,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 6507,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683956.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Lys806Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506882.1",
"strand": true,
"transcript": "ENST00000683956.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6595,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 6501,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000399638.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382547.1",
"strand": true,
"transcript": "ENST00000399638.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2163,
"aa_ref": "K",
"aa_start": 801,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7411,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 6492,
"cds_start": 2402,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000335762.10",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2402A>G",
"hgvs_p": "p.Lys801Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000336982.5",
"strand": true,
"transcript": "ENST00000335762.10",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2158,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6571,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 6477,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000399606.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382515.1",
"strand": true,
"transcript": "ENST00000399606.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2157,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6568,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 6474,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000399621.5",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Lys776Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382530.1",
"strand": true,
"transcript": "ENST00000399621.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2157,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6568,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 6474,
"cds_start": 2327,
"consequences": [
"missense_variant"
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