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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: 10-92454521-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=92454521&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 92454521,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004969.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2983A>G",
"hgvs_p": "p.Met995Val",
"transcript": "NM_004969.4",
"protein_id": "NP_004960.2",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265986.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004969.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2983A>G",
"hgvs_p": "p.Met995Val",
"transcript": "ENST00000265986.11",
"protein_id": "ENSP00000265986.6",
"transcript_support_level": 1,
"aa_start": 995,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004969.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265986.11"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.3124A>G",
"hgvs_p": "p.Met1042Val",
"transcript": "ENST00000971392.1",
"protein_id": "ENSP00000641451.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971392.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.3088A>G",
"hgvs_p": "p.Met1030Val",
"transcript": "ENST00000857320.1",
"protein_id": "ENSP00000527379.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1054,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857320.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.3010A>G",
"hgvs_p": "p.Met1004Val",
"transcript": "ENST00000926843.1",
"protein_id": "ENSP00000596902.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1028,
"cds_start": 3010,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926843.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2983A>G",
"hgvs_p": "p.Met995Val",
"transcript": "NM_001322793.2",
"protein_id": "NP_001309722.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322793.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2983A>G",
"hgvs_p": "p.Met995Val",
"transcript": "ENST00000650060.2",
"protein_id": "ENSP00000497272.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650060.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2920A>G",
"hgvs_p": "p.Met974Val",
"transcript": "ENST00000676540.1",
"protein_id": "ENSP00000504633.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 998,
"cds_start": 2920,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676540.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2866A>G",
"hgvs_p": "p.Met956Val",
"transcript": "NM_001322794.2",
"protein_id": "NP_001309723.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 980,
"cds_start": 2866,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322794.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2860A>G",
"hgvs_p": "p.Met954Val",
"transcript": "NM_001322795.2",
"protein_id": "NP_001309724.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 978,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322795.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2860A>G",
"hgvs_p": "p.Met954Val",
"transcript": "NM_001322796.1",
"protein_id": "NP_001309725.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 978,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322796.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2860A>G",
"hgvs_p": "p.Met954Val",
"transcript": "NM_001410974.1",
"protein_id": "NP_001397903.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 978,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410974.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2860A>G",
"hgvs_p": "p.Met954Val",
"transcript": "ENST00000678715.1",
"protein_id": "ENSP00000503025.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 978,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678715.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2842A>G",
"hgvs_p": "p.Met948Val",
"transcript": "ENST00000677079.1",
"protein_id": "ENSP00000503417.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 972,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677079.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2842A>G",
"hgvs_p": "p.Met948Val",
"transcript": "ENST00000926841.1",
"protein_id": "ENSP00000596900.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 972,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926841.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2815A>G",
"hgvs_p": "p.Met939Val",
"transcript": "ENST00000926842.1",
"protein_id": "ENSP00000596901.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 963,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926842.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2710A>G",
"hgvs_p": "p.Met904Val",
"transcript": "ENST00000679089.1",
"protein_id": "ENSP00000504067.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 928,
"cds_start": 2710,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679089.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2710A>G",
"hgvs_p": "p.Met904Val",
"transcript": "ENST00000857321.1",
"protein_id": "ENSP00000527380.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 928,
"cds_start": 2710,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857321.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.2542A>G",
"hgvs_p": "p.Met848Val",
"transcript": "ENST00000678673.1",
"protein_id": "ENSP00000503082.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 872,
"cds_start": 2542,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678673.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1318A>G",
"hgvs_p": "p.Met440Val",
"transcript": "NM_001165946.2",
"protein_id": "NP_001159418.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 464,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165946.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1318A>G",
"hgvs_p": "p.Met440Val",
"transcript": "NM_001322797.2",
"protein_id": "NP_001309726.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 464,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322797.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDE",
"gene_hgnc_id": 5381,
"hgvs_c": "c.1318A>G",
"hgvs_p": "p.Met440Val",
"transcript": "ENST00000371581.9",
"protein_id": "ENSP00000360637.5",
"transcript_support_level": 2,
"aa_start": 440,
"aa_end": null,
"aa_length": 464,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.1076,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.651,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004969.4",
"gene_symbol": "IDE",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.2983A>G",
"hgvs_p": "p.Met995Val"
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],
"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
}