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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: 15-99729184-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=99729184&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 99729184,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152449.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "NM_001284417.2",
"protein_id": "NP_001271346.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684762.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284417.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "ENST00000684762.1",
"protein_id": "ENSP00000506747.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001284417.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684762.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.833C>G",
"hgvs_p": "p.Ala278Gly",
"transcript": "ENST00000344791.6",
"protein_id": "ENSP00000342840.2",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 833,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344791.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "ENST00000409796.5",
"protein_id": "ENSP00000386283.1",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409796.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "n.47+4161C>G",
"hgvs_p": null,
"transcript": "ENST00000604213.1",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000604213.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.833C>G",
"hgvs_p": "p.Ala278Gly",
"transcript": "NM_152449.4",
"protein_id": "NP_689662.2",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 833,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152449.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "NM_001284418.2",
"protein_id": "NP_001271347.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284418.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "ENST00000878882.1",
"protein_id": "ENSP00000548941.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878882.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "ENST00000878883.1",
"protein_id": "ENSP00000548942.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878883.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "ENST00000878884.1",
"protein_id": "ENSP00000548943.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878884.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "ENST00000878885.1",
"protein_id": "ENSP00000548944.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878885.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "ENST00000878886.1",
"protein_id": "ENSP00000548945.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878886.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "ENST00000924134.1",
"protein_id": "ENSP00000594193.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924134.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.818C>G",
"hgvs_p": "p.Ala273Gly",
"transcript": "NM_001284419.2",
"protein_id": "NP_001271348.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 292,
"cds_start": 818,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284419.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.647C>G",
"hgvs_p": "p.Ala216Gly",
"transcript": "NM_001284420.1",
"protein_id": "NP_001271349.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 235,
"cds_start": 647,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284420.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.647C>G",
"hgvs_p": "p.Ala216Gly",
"transcript": "ENST00000545021.2",
"protein_id": "ENSP00000445357.2",
"transcript_support_level": 4,
"aa_start": 216,
"aa_end": null,
"aa_length": 235,
"cds_start": 647,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545021.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Ala151Gly",
"transcript": "NM_001284421.2",
"protein_id": "NP_001271350.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 170,
"cds_start": 452,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284421.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Ala151Gly",
"transcript": "NM_001284422.2",
"protein_id": "NP_001271351.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 170,
"cds_start": 452,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284422.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Ala151Gly",
"transcript": "ENST00000332728.8",
"protein_id": "ENSP00000333008.5",
"transcript_support_level": 4,
"aa_start": 151,
"aa_end": null,
"aa_length": 170,
"cds_start": 452,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332728.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.833C>G",
"hgvs_p": "p.Ala278Gly",
"transcript": "XM_017021930.3",
"protein_id": "XP_016877419.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 833,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021930.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Ala277Gly",
"transcript": "XM_047432163.1",
"protein_id": "XP_047288119.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 296,
"cds_start": 830,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432163.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYSMD4",
"gene_hgnc_id": 26571,
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Ala195Gly",
"transcript": "XM_047432164.1",
"protein_id": "XP_047288120.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 214,
"cds_start": 584,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
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],
"gene_symbol": "LYSMD4",
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"dbsnp": null,
"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": 0.060597121715545654,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.1055,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.92,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_152449.4",
"gene_symbol": "LYSMD4",
"hgnc_id": 26571,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.833C>G",
"hgvs_p": "p.Ala278Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}