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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: 3-15635477-GCGGCTG-TCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15635477&ref=GCGGCTG&alt=TCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15635477,
"ref": "GCGGCTG",
"alt": "TCC",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_001281723.4",
"consequences": [
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001370658.1",
"protein_id": "NP_001357587.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "ENST00000643237.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370658.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "ENST00000643237.3",
"protein_id": "ENSP00000495254.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "NM_001370658.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643237.3"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "ENST00000303498.10",
"protein_id": "ENSP00000306477.6",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303498.10"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001281723.4",
"protein_id": "NP_001268652.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 9840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281723.4"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001281724.3",
"protein_id": "NP_001268653.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 10152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281724.3"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001281725.3",
"protein_id": "NP_001268654.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 10122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281725.3"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001323582.2",
"protein_id": "NP_001310511.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 10240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323582.2"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407364.1",
"protein_id": "NP_001394293.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 9928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407364.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407365.1",
"protein_id": "NP_001394294.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 10101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407365.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407366.1",
"protein_id": "NP_001394295.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 10529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407366.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407367.1",
"protein_id": "NP_001394296.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 10116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407367.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407368.1",
"protein_id": "NP_001394297.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 10499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407368.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407369.1",
"protein_id": "NP_001394298.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
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"cdna_start": 755,
"cdna_end": null,
"cdna_length": 10515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407369.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407370.1",
"protein_id": "NP_001394299.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 10392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407370.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407371.1",
"protein_id": "NP_001394300.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 10566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407371.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407372.1",
"protein_id": "NP_001394301.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 10121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407372.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407373.1",
"protein_id": "NP_001394302.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 10083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407373.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407374.1",
"protein_id": "NP_001394303.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
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"cdna_start": 378,
"cdna_end": null,
"cdna_length": 10138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407374.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407375.1",
"protein_id": "NP_001394304.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
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"cdna_start": 757,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407375.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407376.1",
"protein_id": "NP_001394305.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 10586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407376.1"
},
{
"aa_ref": "CGC",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs",
"transcript": "NM_001407377.1",
"protein_id": "NP_001394306.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 523,
"cds_start": 38,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 10398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407377.1"
},
{
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"hgvs_p": null,
"transcript": "ENST00000471964.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471964.5"
}
],
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"dbsnp": "rs80338684",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.625,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PVS1",
"PM2",
"PP2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001281723.4",
"gene_symbol": "BTD",
"hgnc_id": 1122,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.38_44delGCGGCTGinsTCC",
"hgvs_p": "p.Cys13fs"
}
],
"clinvar_disease": "Biotinidase deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:17 O:1",
"phenotype_combined": "Biotinidase deficiency|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}