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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: 2-85343315-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85343315&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85343315,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017750.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"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.1760T>C",
"hgvs_p": "p.Ile587Thr",
"transcript": "NM_017750.4",
"protein_id": "NP_060220.3",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 610,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000295802.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017750.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1760T>C",
"hgvs_p": "p.Ile587Thr",
"transcript": "ENST00000295802.9",
"protein_id": "ENSP00000295802.4",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 610,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1781,
"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.*147T>C",
"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.*147T>C",
"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": "I",
"aa_alt": "T",
"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.1889T>C",
"hgvs_p": "p.Ile630Thr",
"transcript": "ENST00000910001.1",
"protein_id": "ENSP00000580060.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 653,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910001.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1751T>C",
"hgvs_p": "p.Ile584Thr",
"transcript": "ENST00000942520.1",
"protein_id": "ENSP00000612579.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 607,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942520.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1736T>C",
"hgvs_p": "p.Ile579Thr",
"transcript": "ENST00000910002.1",
"protein_id": "ENSP00000580061.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 602,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910002.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1697T>C",
"hgvs_p": "p.Ile566Thr",
"transcript": "ENST00000910007.1",
"protein_id": "ENSP00000580066.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 589,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910007.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1694T>C",
"hgvs_p": "p.Ile565Thr",
"transcript": "ENST00000910003.1",
"protein_id": "ENSP00000580062.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 588,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910003.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1691T>C",
"hgvs_p": "p.Ile564Thr",
"transcript": "ENST00000910005.1",
"protein_id": "ENSP00000580064.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 587,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910005.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1631T>C",
"hgvs_p": "p.Ile544Thr",
"transcript": "ENST00000910008.1",
"protein_id": "ENSP00000580067.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 567,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910008.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1619T>C",
"hgvs_p": "p.Ile540Thr",
"transcript": "ENST00000910004.1",
"protein_id": "ENSP00000580063.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 563,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910004.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1562T>C",
"hgvs_p": "p.Ile521Thr",
"transcript": "ENST00000942521.1",
"protein_id": "ENSP00000612580.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 544,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942521.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1433T>C",
"hgvs_p": "p.Ile478Thr",
"transcript": "ENST00000910006.1",
"protein_id": "ENSP00000580065.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 501,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910006.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1247T>C",
"hgvs_p": "p.Ile416Thr",
"transcript": "ENST00000910009.1",
"protein_id": "ENSP00000580068.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 439,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910009.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1124T>C",
"hgvs_p": "p.Ile375Thr",
"transcript": "ENST00000449375.1",
"protein_id": "ENSP00000412166.1",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 398,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449375.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.1118T>C",
"hgvs_p": "p.Ile373Thr",
"transcript": "ENST00000910010.1",
"protein_id": "ENSP00000580069.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 396,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1139,
"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.*735T>C",
"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.*735T>C",
"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": "rs1239172435",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000410432,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9321221113204956,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.534,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7651,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.596,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017750.4",
"gene_symbol": "RETSAT",
"hgnc_id": 25991,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1760T>C",
"hgvs_p": "p.Ile587Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}