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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: 22-50524013-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50524013&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PM1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCO2",
"hgnc_id": 10604,
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_005138.3",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "NCAPH2",
"hgnc_id": 25071,
"hgvs_c": "c.*638_*639delGCinsAT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001185011.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000272821",
"hgnc_id": null,
"hgvs_c": "n.88_89delGCinsAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000608319.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1,PM1",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"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": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": 539,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005138.3",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395693.8",
"protein_coding": true,
"protein_id": "NP_005129.2",
"strand": false,
"transcript": "NM_005138.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": 539,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395693.8",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005138.3",
"protein_coding": true,
"protein_id": "ENSP00000379046.4",
"strand": false,
"transcript": "ENST00000395693.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_152299.4",
"gene_hgnc_id": 25071,
"gene_symbol": "NCAPH2",
"hgvs_c": "c.*638_*639delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000420993.7",
"protein_coding": true,
"protein_id": "NP_689512.2",
"strand": true,
"transcript": "NM_152299.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000420993.7",
"gene_hgnc_id": 25071,
"gene_symbol": "NCAPH2",
"hgvs_c": "c.*638_*639delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152299.4",
"protein_coding": true,
"protein_id": "ENSP00000410088.2",
"strand": true,
"transcript": "ENST00000420993.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1054,
"cdna_start": 609,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001169109.2",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001162580.1",
"strand": false,
"transcript": "NM_001169109.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1002,
"cdna_start": 557,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001169110.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001162581.1",
"strand": false,
"transcript": "NM_001169110.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 569,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001169111.2",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001162582.1",
"strand": false,
"transcript": "NM_001169111.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 992,
"cdna_start": 575,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000252785.3",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000252785.3",
"strand": false,
"transcript": "ENST00000252785.3",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1002,
"cdna_start": 557,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535425.5",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444242.1",
"strand": false,
"transcript": "ENST00000535425.5",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1068,
"cdna_start": 628,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543927.6",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444433.1",
"strand": false,
"transcript": "ENST00000543927.6",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 511,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862162.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532221.1",
"strand": false,
"transcript": "ENST00000862162.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862163.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532222.1",
"strand": false,
"transcript": "ENST00000862163.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 944,
"cdna_start": 502,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862164.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532223.1",
"strand": false,
"transcript": "ENST00000862164.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 945,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
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],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862165.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532224.1",
"strand": false,
"transcript": "ENST00000862165.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862166.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532225.1",
"strand": false,
"transcript": "ENST00000862166.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 935,
"cdna_start": 492,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862167.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532226.1",
"strand": false,
"transcript": "ENST00000862167.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862168.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532227.1",
"strand": false,
"transcript": "ENST00000862168.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 915,
"cdna_start": 470,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862169.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532228.1",
"strand": false,
"transcript": "ENST00000862169.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 989,
"cdna_start": 540,
"cds_end": null,
"cds_length": 801,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928020.1",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598079.1",
"strand": false,
"transcript": "ENST00000928020.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 167,
"aa_ref": "C",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 664,
"cdna_start": 557,
"cds_end": null,
"cds_length": 506,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638598.2",
"gene_hgnc_id": 10604,
"gene_symbol": "SCO2",
"hgvs_c": "c.398_399delGCinsAT",
"hgvs_p": "p.Cys133Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491753.2",
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