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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: 11-72329786-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72329786&ref=C&alt=G&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": "CLPB",
"hgnc_id": 30664,
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_030813.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 5591,
"alphamissense_prediction": null,
"alphamissense_score": 0.13,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": " type VIIB,3-methylglutaconic aciduria,CLPB-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0025919079780578613,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 707,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10053,
"cdna_start": 941,
"cds_end": null,
"cds_length": 2124,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_030813.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000294053.9",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_110440.1",
"strand": false,
"transcript": "NM_030813.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 707,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10053,
"cdna_start": 941,
"cds_end": null,
"cds_length": 2124,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000294053.9",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_030813.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000294053.3",
"strand": false,
"transcript": "ENST00000294053.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9963,
"cdna_start": 851,
"cds_end": null,
"cds_length": 2034,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001258392.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000538039.6",
"protein_coding": true,
"protein_id": "NP_001245321.1",
"strand": false,
"transcript": "NM_001258392.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9963,
"cdna_start": 851,
"cds_end": null,
"cds_length": 2034,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000538039.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001258392.3",
"protein_coding": true,
"protein_id": "ENSP00000441518.1",
"strand": false,
"transcript": "ENST00000538039.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 909,
"cds_end": null,
"cds_length": 2097,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955687.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625746.1",
"strand": false,
"transcript": "ENST00000955687.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 2079,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000543042.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439746.2",
"strand": false,
"transcript": "ENST00000543042.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 877,
"cds_end": null,
"cds_length": 2067,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955683.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625742.1",
"strand": false,
"transcript": "ENST00000955683.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 901,
"cds_end": null,
"cds_length": 2064,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866362.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.869G>C",
"hgvs_p": "p.Arg290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536421.1",
"strand": false,
"transcript": "ENST00000866362.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 901,
"cds_end": null,
"cds_length": 2064,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000866363.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Arg275Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536422.1",
"strand": false,
"transcript": "ENST00000866363.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 841,
"cds_end": null,
"cds_length": 2031,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955688.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.791G>C",
"hgvs_p": "p.Arg264Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625747.1",
"strand": false,
"transcript": "ENST00000955688.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 672,
"aa_ref": "R",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 844,
"cds_end": null,
"cds_length": 2019,
"cds_start": 779,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955686.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625745.1",
"strand": false,
"transcript": "ENST00000955686.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 662,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10160,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1989,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001258394.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.749G>C",
"hgvs_p": "p.Arg250Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245323.1",
"strand": false,
"transcript": "NM_001258394.3",
"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": 848,
"cds_end": null,
"cds_length": 1956,
"cds_start": 794,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938927.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608986.1",
"strand": false,
"transcript": "ENST00000938927.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9876,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1947,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001258393.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245322.1",
"strand": false,
"transcript": "NM_001258393.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1947,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000340729.9",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340385.5",
"strand": false,
"transcript": "ENST00000340729.9",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1914,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955685.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625744.1",
"strand": false,
"transcript": "ENST00000955685.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 634,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 724,
"cds_end": null,
"cds_length": 1905,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955684.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.665G>C",
"hgvs_p": "p.Arg222Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625743.1",
"strand": false,
"transcript": "ENST00000955684.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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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": 539,
"cds_end": null,
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"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000866364.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536423.1",
"strand": false,
"transcript": "ENST00000866364.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 381,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 1421,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1146,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000642288.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.281G>C",
"hgvs_p": "p.Arg94Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495167.1",
"strand": false,
"transcript": "ENST00000642288.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 151,
"aa_ref": "R",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 624,
"cdna_start": 522,
"cds_end": null,
"cds_length": 458,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000544683.5",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.356G>C",
"hgvs_p": "p.Arg119Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442651.1",
"strand": false,
"transcript": "ENST00000544683.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9966,
"cdna_start": 854,
"cds_end": null,
"cds_length": 2037,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005274320.2",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
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