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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: 2-85343265-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85343265&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85343265,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017750.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1810C>G",
"hgvs_p": "p.Arg604Gly",
"transcript": "NM_017750.4",
"protein_id": "NP_060220.3",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 610,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000295802.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017750.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1810C>G",
"hgvs_p": "p.Arg604Gly",
"transcript": "ENST00000295802.9",
"protein_id": "ENSP00000295802.4",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 610,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "NM_017750.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295802.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "n.*197C>G",
"hgvs_p": null,
"transcript": "ENST00000429806.5",
"protein_id": "ENSP00000388202.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000429806.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "n.*197C>G",
"hgvs_p": null,
"transcript": "ENST00000429806.5",
"protein_id": "ENSP00000388202.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000429806.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1939C>G",
"hgvs_p": "p.Arg647Gly",
"transcript": "ENST00000910001.1",
"protein_id": "ENSP00000580060.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 653,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910001.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Arg601Gly",
"transcript": "ENST00000942520.1",
"protein_id": "ENSP00000612579.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 607,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942520.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1786C>G",
"hgvs_p": "p.Arg596Gly",
"transcript": "ENST00000910002.1",
"protein_id": "ENSP00000580061.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 602,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910002.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1747C>G",
"hgvs_p": "p.Arg583Gly",
"transcript": "ENST00000910007.1",
"protein_id": "ENSP00000580066.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 589,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910007.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1744C>G",
"hgvs_p": "p.Arg582Gly",
"transcript": "ENST00000910003.1",
"protein_id": "ENSP00000580062.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 588,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910003.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1741C>G",
"hgvs_p": "p.Arg581Gly",
"transcript": "ENST00000910005.1",
"protein_id": "ENSP00000580064.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 587,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910005.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1681C>G",
"hgvs_p": "p.Arg561Gly",
"transcript": "ENST00000910008.1",
"protein_id": "ENSP00000580067.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 567,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910008.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1669C>G",
"hgvs_p": "p.Arg557Gly",
"transcript": "ENST00000910004.1",
"protein_id": "ENSP00000580063.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 563,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910004.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1612C>G",
"hgvs_p": "p.Arg538Gly",
"transcript": "ENST00000942521.1",
"protein_id": "ENSP00000612580.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 544,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942521.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1483C>G",
"hgvs_p": "p.Arg495Gly",
"transcript": "ENST00000910006.1",
"protein_id": "ENSP00000580065.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 501,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910006.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1297C>G",
"hgvs_p": "p.Arg433Gly",
"transcript": "ENST00000910009.1",
"protein_id": "ENSP00000580068.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 439,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910009.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "ENST00000449375.1",
"protein_id": "ENSP00000412166.1",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 398,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449375.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "c.1168C>G",
"hgvs_p": "p.Arg390Gly",
"transcript": "ENST00000910010.1",
"protein_id": "ENSP00000580069.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 396,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "n.*785C>G",
"hgvs_p": null,
"transcript": "ENST00000438611.4",
"protein_id": "ENSP00000444814.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438611.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"hgvs_c": "n.*785C>G",
"hgvs_p": null,
"transcript": "ENST00000438611.4",
"protein_id": "ENSP00000444814.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438611.4"
}
],
"gene_symbol": "RETSAT",
"gene_hgnc_id": 25991,
"dbsnp": "rs71337786",
"frequency_reference_population": 0.000002052267,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205227,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.054541945457458496,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0859,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.363,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017750.4",
"gene_symbol": "RETSAT",
"hgnc_id": 25991,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1810C>G",
"hgvs_p": "p.Arg604Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}