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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: 15-51215769-GCG-ACC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=51215769&ref=GCG&alt=ACC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP19A1",
"hgnc_id": 2594,
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000103.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "MIR4713HG",
"hgnc_id": 53124,
"hgvs_c": "n.195-62214_195-62212delGCGinsACC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000559909.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000103.4",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396402.6",
"protein_coding": true,
"protein_id": "NP_000094.2",
"strand": false,
"transcript": "NM_000103.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396402.6",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000103.4",
"protein_coding": true,
"protein_id": "ENSP00000379683.1",
"strand": false,
"transcript": "ENST00000396402.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559878.5",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453149.1",
"strand": false,
"transcript": "ENST00000559878.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "non_stop_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000439712.6",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "n.790_792delCGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390614.2",
"strand": false,
"transcript": "ENST00000439712.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "non_stop_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000557934.5",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "n.790_792delCGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454004.1",
"strand": false,
"transcript": "ENST00000557934.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4410,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347248.1",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334177.1",
"strand": false,
"transcript": "NM_001347248.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347249.2",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334178.1",
"strand": false,
"transcript": "NM_001347249.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347250.2",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334179.1",
"strand": false,
"transcript": "NM_001347250.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347251.2",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334180.1",
"strand": false,
"transcript": "NM_001347251.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4454,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347252.2",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334181.1",
"strand": false,
"transcript": "NM_001347252.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4573,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347253.2",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334182.1",
"strand": false,
"transcript": "NM_001347253.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4468,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347254.2",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334183.1",
"strand": false,
"transcript": "NM_001347254.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4495,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347255.2",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334184.1",
"strand": false,
"transcript": "NM_001347255.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347256.2",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334185.1",
"strand": false,
"transcript": "NM_001347256.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_031226.3",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112503.1",
"strand": false,
"transcript": "NM_031226.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396404.8",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379685.4",
"strand": false,
"transcript": "ENST00000396404.8",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": 1053,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952753.1",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622812.1",
"strand": false,
"transcript": "ENST00000952753.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952754.1",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622813.1",
"strand": false,
"transcript": "ENST00000952754.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1512,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952755.1",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.790_792delCGCinsGGT",
"hgvs_p": "p.Arg264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622814.1",
"strand": false,
"transcript": "ENST00000952755.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 444,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1335,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952752.1",
"gene_hgnc_id": 2594,
"gene_symbol": "CYP19A1",
"hgvs_c": "c.613_615delCGCinsGGT",
"hgvs_p": "p.Arg205Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622811.1",
"strand": false,
"transcript": "ENST00000952752.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 282,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1032,
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