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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: 10-92468979-TCC-ACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=92468979&ref=TCC&alt=ACG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IDE",
"hgnc_id": 5381,
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004969.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5894,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004969.4",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265986.11",
"protein_coding": true,
"protein_id": "NP_004960.2",
"strand": false,
"transcript": "NM_004969.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5894,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265986.11",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004969.4",
"protein_coding": true,
"protein_id": "ENSP00000265986.6",
"strand": false,
"transcript": "ENST00000265986.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "G",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5471,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 3201,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971392.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2359_2361delGGAinsCGT",
"hgvs_p": "p.Gly787Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641451.1",
"strand": false,
"transcript": "ENST00000971392.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857320.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527379.1",
"strand": false,
"transcript": "ENST00000857320.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1028,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": 2284,
"cds_end": null,
"cds_length": 3087,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926843.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596902.1",
"strand": false,
"transcript": "ENST00000926843.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5894,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322793.2",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309722.1",
"strand": false,
"transcript": "NM_001322793.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5894,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650060.2",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497272.1",
"strand": false,
"transcript": "ENST00000650060.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 998,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5252,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676540.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504633.1",
"strand": false,
"transcript": "ENST00000676540.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 980,
"aa_ref": "G",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 2177,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322794.2",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2101_2103delGGAinsCGT",
"hgvs_p": "p.Gly701Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309723.1",
"strand": false,
"transcript": "NM_001322794.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 978,
"aa_ref": "G",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6076,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322795.2",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2095_2097delGGAinsCGT",
"hgvs_p": "p.Gly699Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309724.1",
"strand": false,
"transcript": "NM_001322795.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 978,
"aa_ref": "G",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6060,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322796.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2095_2097delGGAinsCGT",
"hgvs_p": "p.Gly699Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309725.1",
"strand": false,
"transcript": "NM_001322796.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 978,
"aa_ref": "G",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6076,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410974.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2095_2097delGGAinsCGT",
"hgvs_p": "p.Gly699Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397903.1",
"strand": false,
"transcript": "NM_001410974.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 978,
"aa_ref": "G",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5356,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678715.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2095_2097delGGAinsCGT",
"hgvs_p": "p.Gly699Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503025.1",
"strand": false,
"transcript": "ENST00000678715.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 972,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677079.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503417.1",
"strand": false,
"transcript": "ENST00000677079.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 972,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5530,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926841.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596900.1",
"strand": false,
"transcript": "ENST00000926841.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 963,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5142,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926842.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596901.1",
"strand": false,
"transcript": "ENST00000926842.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 928,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679089.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504067.1",
"strand": false,
"transcript": "ENST00000679089.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857321.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527380.1",
"strand": false,
"transcript": "ENST00000857321.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 872,
"aa_ref": "G",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4868,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2619,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678673.1",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.2218_2220delGGAinsCGT",
"hgvs_p": "p.Gly740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503082.1",
"strand": false,
"transcript": "ENST00000678673.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4483,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1395,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001165946.2",
"gene_hgnc_id": 5381,
"gene_symbol": "IDE",
"hgvs_c": "c.553_555delGGAinsCGT",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159418.1",
"strand": false,
"transcript": "NM_001165946.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4483,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1395,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322797.2",
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