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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: 16-11553608-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11553608&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11553608,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004862.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "NM_001136472.2",
"protein_id": "NP_001129944.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000622633.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136472.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000622633.5",
"protein_id": "ENSP00000483114.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136472.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622633.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000339430.9",
"protein_id": "ENSP00000340118.5",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339430.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000570904.5",
"protein_id": "ENSP00000459138.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570904.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000571688.6",
"protein_id": "ENSP00000459533.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571688.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000928733.1",
"protein_id": "ENSP00000598792.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 172,
"cds_start": 302,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928733.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "NM_004862.4",
"protein_id": "NP_004853.2",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004862.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000574763.5",
"protein_id": "ENSP00000461813.1",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574763.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000576036.5",
"protein_id": "ENSP00000461667.1",
"transcript_support_level": 4,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576036.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888115.1",
"protein_id": "ENSP00000558174.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888115.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888116.1",
"protein_id": "ENSP00000558175.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888116.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888117.1",
"protein_id": "ENSP00000558176.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888117.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888118.1",
"protein_id": "ENSP00000558177.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888118.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888119.1",
"protein_id": "ENSP00000558178.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888119.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888120.1",
"protein_id": "ENSP00000558179.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888120.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888121.1",
"protein_id": "ENSP00000558180.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888121.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888122.1",
"protein_id": "ENSP00000558181.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888122.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888123.1",
"protein_id": "ENSP00000558182.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888123.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000888124.1",
"protein_id": "ENSP00000558183.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888124.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000928730.1",
"protein_id": "ENSP00000598789.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928730.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000928731.1",
"protein_id": "ENSP00000598790.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928731.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg",
"transcript": "ENST00000928732.1",
"protein_id": "ENSP00000598791.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 161,
"cds_start": 302,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928732.1"
},
{
"aa_ref": "K",
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{
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{
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],
"gene_symbol": "LITAF",
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"dbsnp": "rs201283647",
"frequency_reference_population": 0.00037543304,
"hom_count_reference_population": 0,
"allele_count_reference_population": 606,
"gnomad_exomes_af": 0.000394016,
"gnomad_genomes_af": 0.000197024,
"gnomad_exomes_ac": 576,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08748722076416016,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6000000238418579,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.371,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0874,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.167,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.6,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 9,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004862.4",
"gene_symbol": "LITAF",
"hgnc_id": 16841,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Lys101Arg"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 1C,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 1C|Charcot-Marie-Tooth disease|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}