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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: 7-14682763-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=14682763&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DGKB",
"hgnc_id": 2850,
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001350705.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.064,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07336127758026123,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 803,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6841,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 2412,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350709.2",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402815.6",
"protein_coding": true,
"protein_id": "NP_001337638.1",
"strand": false,
"transcript": "NM_001350709.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 803,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6841,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 2412,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000402815.6",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001350709.2",
"protein_coding": true,
"protein_id": "ENSP00000384909.1",
"strand": false,
"transcript": "ENST00000402815.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 773,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3257,
"cdna_start": 992,
"cds_end": null,
"cds_length": 2322,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000406247.7",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386066.3",
"strand": false,
"transcript": "ENST00000406247.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7212,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 2415,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350705.1",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337634.1",
"strand": false,
"transcript": "NM_001350705.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6844,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 2415,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350706.2",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337635.1",
"strand": false,
"transcript": "NM_001350706.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6684,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 2415,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000399322.7",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382260.3",
"strand": false,
"transcript": "ENST00000399322.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6917,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 2415,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000403951.6",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385780.2",
"strand": false,
"transcript": "ENST00000403951.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 803,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6844,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 2412,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350707.2",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337636.1",
"strand": false,
"transcript": "NM_001350707.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 803,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7209,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 2412,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350708.1",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337637.1",
"strand": false,
"transcript": "NM_001350708.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 803,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6244,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 2412,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967727.1",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637786.1",
"strand": false,
"transcript": "ENST00000967727.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 797,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7191,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 2394,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350715.1",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337644.1",
"strand": false,
"transcript": "NM_001350715.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6823,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 2394,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 25,
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"exon_rank_end": null,
"feature": "NM_001350716.2",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337645.1",
"strand": false,
"transcript": "NM_001350716.2",
"transcript_support_level": null
},
{
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"cdna_length": 4258,
"cdna_start": 1234,
"cds_end": null,
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"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 25,
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"feature": "ENST00000910833.1",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580892.1",
"strand": false,
"transcript": "ENST00000910833.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 796,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6823,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 2391,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350711.2",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337640.1",
"strand": false,
"transcript": "NM_001350711.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1602,
"cds_end": null,
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"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350712.1",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337641.1",
"strand": false,
"transcript": "NM_001350712.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6820,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 2391,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350714.2",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337643.1",
"strand": false,
"transcript": "NM_001350714.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 1325,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 25,
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"exon_rank_end": null,
"feature": "ENST00000407950.5",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Lys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000385031.1",
"strand": false,
"transcript": "ENST00000407950.5",
"transcript_support_level": 5
},
{
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"cdna_start": 1575,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 25,
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"exon_rank_end": null,
"feature": "ENST00000910829.1",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Lys",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580888.1",
"strand": false,
"transcript": "ENST00000910829.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1258,
"cds_end": null,
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"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350717.2",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337646.1",
"strand": false,
"transcript": "NM_001350717.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 792,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7176,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 2379,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350718.1",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337647.1",
"strand": false,
"transcript": "NM_001350718.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 792,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6808,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 2379,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350719.2",
"gene_hgnc_id": 2850,
"gene_symbol": "DGKB",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303Lys",
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{
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],
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}
]
}