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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: 14-52653146-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=52653146&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ERO1A",
"hgnc_id": 13280,
"hgvs_c": "c.1017T>A",
"hgvs_p": "p.Asp339Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001382464.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 4,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1031,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "14",
"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": 0.06089922785758972,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 468,
"aa_ref": "D",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5139,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1407,
"cds_start": 978,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_014584.3",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.978T>A",
"hgvs_p": "p.Asp326Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395686.8",
"protein_coding": true,
"protein_id": "NP_055399.1",
"strand": false,
"transcript": "NM_014584.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 468,
"aa_ref": "D",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5139,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1407,
"cds_start": 978,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000395686.8",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.978T>A",
"hgvs_p": "p.Asp326Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014584.3",
"protein_coding": true,
"protein_id": "ENSP00000379042.3",
"strand": false,
"transcript": "ENST00000395686.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 481,
"aa_ref": "D",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1017,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001382464.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.1017T>A",
"hgvs_p": "p.Asp339Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369393.1",
"strand": false,
"transcript": "NM_001382464.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 481,
"aa_ref": "D",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1017,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964628.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.1017T>A",
"hgvs_p": "p.Asp339Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634687.1",
"strand": false,
"transcript": "ENST00000964628.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 464,
"aa_ref": "D",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5127,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1395,
"cds_start": 966,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001382465.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.966T>A",
"hgvs_p": "p.Asp322Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369394.1",
"strand": false,
"transcript": "NM_001382465.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 464,
"aa_ref": "D",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5127,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1395,
"cds_start": 966,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382466.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.966T>A",
"hgvs_p": "p.Asp322Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369395.1",
"strand": false,
"transcript": "NM_001382466.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 464,
"aa_ref": "D",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5594,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1395,
"cds_start": 966,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000910737.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.966T>A",
"hgvs_p": "p.Asp322Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580796.1",
"strand": false,
"transcript": "ENST00000910737.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 464,
"aa_ref": "D",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1395,
"cds_start": 966,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000964630.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.966T>A",
"hgvs_p": "p.Asp322Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634689.1",
"strand": false,
"transcript": "ENST00000964630.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 459,
"aa_ref": "D",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5112,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1380,
"cds_start": 951,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001382467.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.951T>A",
"hgvs_p": "p.Asp317Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369396.1",
"strand": false,
"transcript": "NM_001382467.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 455,
"aa_ref": "D",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5100,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1368,
"cds_start": 939,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001382468.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.939T>A",
"hgvs_p": "p.Asp313Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369397.1",
"strand": false,
"transcript": "NM_001382468.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 451,
"aa_ref": "D",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5088,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1356,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001382469.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.927T>A",
"hgvs_p": "p.Asp309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369398.1",
"strand": false,
"transcript": "NM_001382469.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1332,
"cds_start": 903,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382470.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.903T>A",
"hgvs_p": "p.Asp301Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369399.1",
"strand": false,
"transcript": "NM_001382470.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 439,
"aa_ref": "D",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5052,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1320,
"cds_start": 891,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382471.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.891T>A",
"hgvs_p": "p.Asp297Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369400.1",
"strand": false,
"transcript": "NM_001382471.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 431,
"aa_ref": "D",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5028,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1296,
"cds_start": 867,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001382472.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.867T>A",
"hgvs_p": "p.Asp289Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369401.1",
"strand": false,
"transcript": "NM_001382472.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 428,
"aa_ref": "D",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1287,
"cds_start": 858,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001382473.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.858T>A",
"hgvs_p": "p.Asp286Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369402.1",
"strand": false,
"transcript": "NM_001382473.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 424,
"aa_ref": "D",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1275,
"cds_start": 846,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964629.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.846T>A",
"hgvs_p": "p.Asp282Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634688.1",
"strand": false,
"transcript": "ENST00000964629.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 400,
"aa_ref": "D",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4935,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1203,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001382474.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.774T>A",
"hgvs_p": "p.Asp258Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369403.1",
"strand": false,
"transcript": "NM_001382474.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1167,
"cds_start": 738,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382475.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.738T>A",
"hgvs_p": "p.Asp246Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369404.1",
"strand": false,
"transcript": "NM_001382475.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 383,
"aa_ref": "D",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1152,
"cds_start": 723,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382476.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.723T>A",
"hgvs_p": "p.Asp241Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369405.1",
"strand": false,
"transcript": "NM_001382476.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 383,
"aa_ref": "D",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1152,
"cds_start": 723,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000910738.1",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.723T>A",
"hgvs_p": "p.Asp241Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580797.1",
"strand": false,
"transcript": "ENST00000910738.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 74,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": null,
"cds_end": null,
"cds_length": 225,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000556358.5",
"gene_hgnc_id": 13280,
"gene_symbol": "ERO1A",
"hgvs_c": "c.-46T>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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}