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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: 8-132714174-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132714174&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM71",
"hgnc_id": 26572,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ser264Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001382396.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000287095",
"hgnc_id": null,
"hgvs_c": "n.261-5893G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000666760.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0961,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19653284549713135,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 937,
"cds_end": null,
"cds_length": 888,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382403.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000677595.1",
"protein_coding": true,
"protein_id": "NP_001369332.1",
"strand": false,
"transcript": "NM_001382403.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 937,
"cds_end": null,
"cds_length": 888,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000677595.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382403.1",
"protein_coding": true,
"protein_id": "ENSP00000504388.1",
"strand": false,
"transcript": "ENST00000677595.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 276,
"aa_ref": "S",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 880,
"cds_end": null,
"cds_length": 831,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000356838.7",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349296.3",
"strand": false,
"transcript": "ENST00000356838.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 232,
"aa_ref": "S",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 748,
"cds_end": null,
"cds_length": 699,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000377901.8",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ser202Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367133.4",
"strand": false,
"transcript": "ENST00000377901.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "S",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1017,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382396.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ser264Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369325.1",
"strand": false,
"transcript": "NM_001382396.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 316,
"aa_ref": "S",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 954,
"cds_end": null,
"cds_length": 951,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382397.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Ser286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369326.1",
"strand": false,
"transcript": "NM_001382397.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 316,
"aa_ref": "S",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 951,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382402.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Ser286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369331.1",
"strand": false,
"transcript": "NM_001382402.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 316,
"aa_ref": "S",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 955,
"cds_end": null,
"cds_length": 951,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000872715.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Ser286Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542774.1",
"strand": false,
"transcript": "ENST00000872715.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 315,
"aa_ref": "S",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 993,
"cds_end": null,
"cds_length": 948,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000872714.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542773.1",
"strand": false,
"transcript": "ENST00000872714.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 313,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 937,
"cds_end": null,
"cds_length": 942,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382398.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369327.1",
"strand": false,
"transcript": "NM_001382398.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 313,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 916,
"cds_end": null,
"cds_length": 942,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000523829.5",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428228.1",
"strand": false,
"transcript": "ENST00000523829.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 297,
"aa_ref": "S",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 943,
"cds_end": null,
"cds_length": 894,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382399.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ser267Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369328.1",
"strand": false,
"transcript": "NM_001382399.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 297,
"aa_ref": "S",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 943,
"cds_end": null,
"cds_length": 894,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000872713.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ser267Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542772.1",
"strand": false,
"transcript": "ENST00000872713.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 940,
"cds_end": null,
"cds_length": 891,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382400.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Ser266Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369329.1",
"strand": false,
"transcript": "NM_001382400.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 888,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382404.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369333.1",
"strand": false,
"transcript": "NM_001382404.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 969,
"cds_end": null,
"cds_length": 888,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000872716.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542775.1",
"strand": false,
"transcript": "ENST00000872716.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 994,
"cds_end": null,
"cds_length": 888,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000963931.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633990.1",
"strand": false,
"transcript": "ENST00000963931.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "S",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 934,
"cds_end": null,
"cds_length": 885,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001364885.2",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ser264Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351814.1",
"strand": false,
"transcript": "NM_001364885.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 294,
"aa_ref": "S",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 885,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382405.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ser264Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369334.1",
"strand": false,
"transcript": "NM_001382405.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "S",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 1023,
"cds_end": null,
"cds_length": 885,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000872711.1",
"gene_hgnc_id": 26572,
"gene_symbol": "TMEM71",
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ser264Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542770.1",
"strand": false,
"transcript": "ENST00000872711.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "S",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
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