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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: 2-26279189-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26279189&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "HADHB",
"hgnc_id": 4803,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000183.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.63,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Mitochondrial trifunctional protein deficiency,Mitochondrial trifunctional protein deficiency 2",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000183.3",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317799.10",
"protein_coding": true,
"protein_id": "NP_000174.1",
"strand": true,
"transcript": "NM_000183.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000317799.10",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000183.3",
"protein_coding": true,
"protein_id": "ENSP00000325136.5",
"strand": true,
"transcript": "ENST00000317799.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 845,
"cds_end": null,
"cds_length": 1509,
"cds_start": 769,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942431.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612490.1",
"strand": true,
"transcript": "ENST00000942431.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1455,
"cds_start": 715,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942426.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612485.1",
"strand": true,
"transcript": "ENST00000942426.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1452,
"cds_start": 712,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859601.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529660.1",
"strand": true,
"transcript": "ENST00000859601.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 478,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1437,
"cds_start": 697,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942427.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612486.1",
"strand": true,
"transcript": "ENST00000942427.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859582.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529641.1",
"strand": true,
"transcript": "ENST00000859582.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859593.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529652.1",
"strand": true,
"transcript": "ENST00000859593.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859599.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529658.1",
"strand": true,
"transcript": "ENST00000859599.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942424.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612483.1",
"strand": true,
"transcript": "ENST00000942424.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942425.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612484.1",
"strand": true,
"transcript": "ENST00000942425.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942434.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612493.1",
"strand": true,
"transcript": "ENST00000942434.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 789,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942437.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612496.1",
"strand": true,
"transcript": "ENST00000942437.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942440.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612499.1",
"strand": true,
"transcript": "ENST00000942440.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942441.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612500.1",
"strand": true,
"transcript": "ENST00000942441.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1425,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942445.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612504.1",
"strand": true,
"transcript": "ENST00000942445.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1419,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859584.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529643.1",
"strand": true,
"transcript": "ENST00000859584.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1419,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859587.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529646.1",
"strand": true,
"transcript": "ENST00000859587.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1413,
"cds_start": 685,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942429.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612488.1",
"strand": true,
"transcript": "ENST00000942429.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 468,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1407,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859600.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Arg223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529659.1",
"strand": true,
"transcript": "ENST00000859600.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 467,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1404,
"cds_start": 664,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942435.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222*",
"intron_rank": null,
"intron_rank_end": null,
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