← Back to variant description
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: 21-25601452-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=25601452&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 25601452,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_080794.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "NM_017446.4",
"protein_id": "NP_059142.3",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 338,
"cds_start": 436,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": "ENST00000352957.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017446.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "ENST00000352957.9",
"protein_id": "ENSP00000284967.7",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 338,
"cds_start": 436,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": "NM_017446.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352957.9"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "NM_080794.4",
"protein_id": "NP_542984.3",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 353,
"cds_start": 436,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080794.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "ENST00000307301.11",
"protein_id": "ENSP00000305682.7",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 353,
"cds_start": 436,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307301.11"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.454T>G",
"hgvs_p": "p.Cys152Gly",
"transcript": "ENST00000925346.1",
"protein_id": "ENSP00000595405.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 344,
"cds_start": 454,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925346.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "ENST00000925341.1",
"protein_id": "ENSP00000595400.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 339,
"cds_start": 436,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 1124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925341.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "ENST00000946900.1",
"protein_id": "ENSP00000616959.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 337,
"cds_start": 436,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946900.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.427T>G",
"hgvs_p": "p.Cys143Gly",
"transcript": "ENST00000925344.1",
"protein_id": "ENSP00000595403.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 325,
"cds_start": 427,
"cds_end": null,
"cds_length": 978,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925344.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "ENST00000946901.1",
"protein_id": "ENSP00000616960.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 323,
"cds_start": 436,
"cds_end": null,
"cds_length": 972,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946901.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "ENST00000925340.1",
"protein_id": "ENSP00000595399.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 322,
"cds_start": 436,
"cds_end": null,
"cds_length": 969,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 1090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925340.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "ENST00000875588.1",
"protein_id": "ENSP00000545647.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 321,
"cds_start": 436,
"cds_end": null,
"cds_length": 966,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875588.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.382T>G",
"hgvs_p": "p.Cys128Gly",
"transcript": "ENST00000875589.1",
"protein_id": "ENSP00000545648.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 320,
"cds_start": 382,
"cds_end": null,
"cds_length": 963,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875589.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.322T>G",
"hgvs_p": "p.Cys108Gly",
"transcript": "ENST00000925343.1",
"protein_id": "ENSP00000595402.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 300,
"cds_start": 322,
"cds_end": null,
"cds_length": 903,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925343.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "ENST00000419219.1",
"protein_id": "ENSP00000404426.1",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 296,
"cds_start": 436,
"cds_end": null,
"cds_length": 891,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419219.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.229T>G",
"hgvs_p": "p.Cys77Gly",
"transcript": "ENST00000925345.1",
"protein_id": "ENSP00000595404.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 269,
"cds_start": 229,
"cds_end": null,
"cds_length": 810,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925345.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly",
"transcript": "XM_006724026.5",
"protein_id": "XP_006724089.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 353,
"cds_start": 436,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724026.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.310T>G",
"hgvs_p": "p.Cys104Gly",
"transcript": "XM_011529651.3",
"protein_id": "XP_011527953.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 296,
"cds_start": 310,
"cds_end": null,
"cds_length": 891,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529651.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"hgvs_c": "c.281-1586T>G",
"hgvs_p": null,
"transcript": "ENST00000925342.1",
"protein_id": "ENSP00000595401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925342.1"
}
],
"gene_symbol": "MRPL39",
"gene_hgnc_id": 14027,
"dbsnp": "rs761373912",
"frequency_reference_population": 6.9581483e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.95815e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9123003482818604,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.393,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4385,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.92,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_080794.4",
"gene_symbol": "MRPL39",
"hgnc_id": 14027,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.436T>G",
"hgvs_p": "p.Cys146Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}