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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: 7-122345647-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122345647&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CADPS2",
"hgnc_id": 16018,
"hgvs_c": "c.3575T>C",
"hgvs_p": "p.Met1192Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001363389.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000240499",
"hgnc_id": null,
"hgvs_c": "n.98-8682A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000482375.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000293696",
"hgnc_id": null,
"hgvs_c": "n.584-8682A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000718494.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1067,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12223035097122192,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1296,
"aa_ref": "M",
"aa_start": 1180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 3891,
"cds_start": 3539,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_017954.11",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3539T>C",
"hgvs_p": "p.Met1180Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000449022.7",
"protein_coding": true,
"protein_id": "NP_060424.9",
"strand": false,
"transcript": "NM_017954.11",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1296,
"aa_ref": "M",
"aa_start": 1180,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 3891,
"cds_start": 3539,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000449022.7",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3539T>C",
"hgvs_p": "p.Met1180Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017954.11",
"protein_coding": true,
"protein_id": "ENSP00000398481.2",
"strand": false,
"transcript": "ENST00000449022.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "M",
"aa_start": 1139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4308,
"cdna_start": 3537,
"cds_end": null,
"cds_length": 3768,
"cds_start": 3416,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000412584.6",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3416T>C",
"hgvs_p": "p.Met1139Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400401.2",
"strand": false,
"transcript": "ENST00000412584.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1308,
"aa_ref": "M",
"aa_start": 1192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5804,
"cdna_start": 3698,
"cds_end": null,
"cds_length": 3927,
"cds_start": 3575,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001363389.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3575T>C",
"hgvs_p": "p.Met1192Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350318.1",
"strand": false,
"transcript": "NM_001363389.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "M",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5789,
"cdna_start": 3683,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3560,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001363390.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3560T>C",
"hgvs_p": "p.Met1187Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350319.1",
"strand": false,
"transcript": "NM_001363390.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1302,
"aa_ref": "M",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": 3780,
"cds_end": null,
"cds_length": 3909,
"cds_start": 3557,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000951082.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3557T>C",
"hgvs_p": "p.Met1186Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621141.1",
"strand": false,
"transcript": "ENST00000951082.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "M",
"aa_start": 1184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": 3674,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3551,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001167940.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3551T>C",
"hgvs_p": "p.Met1184Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161412.1",
"strand": false,
"transcript": "NM_001167940.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "M",
"aa_start": 1184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": 3674,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3551,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001363391.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3551T>C",
"hgvs_p": "p.Met1184Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350320.1",
"strand": false,
"transcript": "NM_001363391.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "M",
"aa_start": 1179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6029,
"cdna_start": 3937,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3536,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000951078.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3536T>C",
"hgvs_p": "p.Met1179Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621137.1",
"strand": false,
"transcript": "ENST00000951078.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "M",
"aa_start": 1174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 3616,
"cds_end": null,
"cds_length": 3873,
"cds_start": 3521,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870413.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3521T>C",
"hgvs_p": "p.Met1174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540472.1",
"strand": false,
"transcript": "ENST00000870413.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1284,
"aa_ref": "M",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 3618,
"cds_end": null,
"cds_length": 3855,
"cds_start": 3503,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000951090.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3503T>C",
"hgvs_p": "p.Met1168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621149.1",
"strand": false,
"transcript": "ENST00000951090.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 3615,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000951089.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3488T>C",
"hgvs_p": "p.Met1163Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621148.1",
"strand": false,
"transcript": "ENST00000951089.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1268,
"aa_ref": "M",
"aa_start": 1152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": 3578,
"cds_end": null,
"cds_length": 3807,
"cds_start": 3455,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001363392.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3455T>C",
"hgvs_p": "p.Met1152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350321.1",
"strand": false,
"transcript": "NM_001363392.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1263,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5669,
"cdna_start": 3563,
"cds_end": null,
"cds_length": 3792,
"cds_start": 3440,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001363393.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3440T>C",
"hgvs_p": "p.Met1147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350322.1",
"strand": false,
"transcript": "NM_001363393.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "M",
"aa_start": 1146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5920,
"cdna_start": 3828,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3437,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000951079.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3437T>C",
"hgvs_p": "p.Met1146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621138.1",
"strand": false,
"transcript": "ENST00000951079.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "M",
"aa_start": 1144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5660,
"cdna_start": 3554,
"cds_end": null,
"cds_length": 3783,
"cds_start": 3431,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001363394.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3431T>C",
"hgvs_p": "p.Met1144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350323.1",
"strand": false,
"transcript": "NM_001363394.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5651,
"cdna_start": 3545,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3422,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001363395.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3422T>C",
"hgvs_p": "p.Met1141Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350324.1",
"strand": false,
"transcript": "NM_001363395.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1257,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4738,
"cdna_start": 3549,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3422,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870411.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3422T>C",
"hgvs_p": "p.Met1141Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540470.1",
"strand": false,
"transcript": "ENST00000870411.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "M",
"aa_start": 1140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5648,
"cdna_start": 3542,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3419,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001363396.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3419T>C",
"hgvs_p": "p.Met1140Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350325.1",
"strand": false,
"transcript": "NM_001363396.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "M",
"aa_start": 1139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5645,
"cdna_start": 3539,
"cds_end": null,
"cds_length": 3768,
"cds_start": 3416,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
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