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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: 6-69713759-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=69713759&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 69713759,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_018368.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Arg267Arg",
"transcript": "NM_018368.4",
"protein_id": "NP_060838.3",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 540,
"cds_start": 801,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649934.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018368.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Arg267Arg",
"transcript": "ENST00000649934.3",
"protein_id": "ENSP00000497690.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 540,
"cds_start": 801,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018368.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649934.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000370570.6",
"protein_id": "ENSP00000359602.1",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370570.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.921C>T",
"hgvs_p": "p.Arg307Arg",
"transcript": "ENST00000875440.1",
"protein_id": "ENSP00000545499.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 580,
"cds_start": 921,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875440.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Arg267Arg",
"transcript": "ENST00000875437.1",
"protein_id": "ENSP00000545496.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 565,
"cds_start": 801,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875437.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.867C>T",
"hgvs_p": "p.Arg289Arg",
"transcript": "ENST00000649011.1",
"protein_id": "ENSP00000497575.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 562,
"cds_start": 867,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649011.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.735C>T",
"hgvs_p": "p.Arg245Arg",
"transcript": "ENST00000875439.1",
"protein_id": "ENSP00000545498.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 518,
"cds_start": 735,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875439.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Arg229Arg",
"transcript": "ENST00000875441.1",
"protein_id": "ENSP00000545500.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 502,
"cds_start": 687,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875441.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Arg267Arg",
"transcript": "ENST00000875438.1",
"protein_id": "ENSP00000545497.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 490,
"cds_start": 801,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875438.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.624C>T",
"hgvs_p": "p.Arg208Arg",
"transcript": "ENST00000934477.1",
"protein_id": "ENSP00000604536.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 481,
"cds_start": 624,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934477.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "NM_001363722.2",
"protein_id": "NP_001350651.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363722.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "NM_001367271.1",
"protein_id": "NP_001354200.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367271.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "NM_001367272.1",
"protein_id": "NP_001354201.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367272.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000647964.1",
"protein_id": "ENSP00000496784.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647964.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000648168.1",
"protein_id": "ENSP00000498178.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648168.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000648394.1",
"protein_id": "ENSP00000497302.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648394.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000648743.1",
"protein_id": "ENSP00000497135.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648743.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000649028.1",
"protein_id": "ENSP00000498034.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649028.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000649679.1",
"protein_id": "ENSP00000497387.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649679.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000649918.1",
"protein_id": "ENSP00000497487.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649918.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000650035.1",
"protein_id": "ENSP00000497703.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650035.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Arg194Arg",
"transcript": "ENST00000650107.1",
"protein_id": "ENSP00000497124.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 467,
"cds_start": 582,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"dbsnp": "rs34327883",
"frequency_reference_population": 0.0019950122,
"hom_count_reference_population": 71,
"allele_count_reference_population": 3219,
"gnomad_exomes_af": 0.00112701,
"gnomad_genomes_af": 0.0103329,
"gnomad_exomes_ac": 1647,
"gnomad_genomes_ac": 1572,
"gnomad_exomes_homalt": 39,
"gnomad_genomes_homalt": 32,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.16,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018368.4",
"gene_symbol": "LMBRD1",
"hgnc_id": 23038,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Arg267Arg"
}
],
"clinvar_disease": "Methylmalonic aciduria and homocystinuria type cblF,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not specified|Methylmalonic aciduria and homocystinuria type cblF",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}