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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: 3-186790245-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186790245&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 186790245,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002916.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Asp298Gly",
"transcript": "NM_002916.5",
"protein_id": "NP_002907.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 363,
"cds_start": 893,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1365,
"mane_select": "ENST00000296273.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002916.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Asp298Gly",
"transcript": "ENST00000296273.7",
"protein_id": "ENSP00000296273.2",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 363,
"cds_start": 893,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1365,
"mane_select": "NM_002916.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296273.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Asp298Gly",
"transcript": "NM_181573.3",
"protein_id": "NP_853551.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 363,
"cds_start": 893,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181573.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Asp298Gly",
"transcript": "ENST00000392481.6",
"protein_id": "ENSP00000376272.2",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 363,
"cds_start": 893,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392481.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Asp298Gly",
"transcript": "ENST00000928091.1",
"protein_id": "ENSP00000598150.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 363,
"cds_start": 893,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928091.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Asp298Gly",
"transcript": "ENST00000928096.1",
"protein_id": "ENSP00000598155.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 363,
"cds_start": 893,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928096.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Asp298Gly",
"transcript": "ENST00000928097.1",
"protein_id": "ENSP00000598156.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 363,
"cds_start": 893,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928097.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Asp298Gly",
"transcript": "ENST00000928101.1",
"protein_id": "ENSP00000598160.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 363,
"cds_start": 893,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928101.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Asp296Gly",
"transcript": "ENST00000928093.1",
"protein_id": "ENSP00000598152.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 361,
"cds_start": 887,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928093.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.Asp271Gly",
"transcript": "ENST00000433496.5",
"protein_id": "ENSP00000399769.1",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 336,
"cds_start": 812,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433496.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asp258Gly",
"transcript": "ENST00000865406.1",
"protein_id": "ENSP00000535465.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 323,
"cds_start": 773,
"cds_end": null,
"cds_length": 972,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865406.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asp258Gly",
"transcript": "ENST00000928094.1",
"protein_id": "ENSP00000598153.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 323,
"cds_start": 773,
"cds_end": null,
"cds_length": 972,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928094.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.Asp256Gly",
"transcript": "ENST00000928095.1",
"protein_id": "ENSP00000598154.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 321,
"cds_start": 767,
"cds_end": null,
"cds_length": 966,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928095.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Asp101Gly",
"transcript": "ENST00000928099.1",
"protein_id": "ENSP00000598158.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 166,
"cds_start": 302,
"cds_end": null,
"cds_length": 501,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928099.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asp52Gly",
"transcript": "ENST00000928100.1",
"protein_id": "ENSP00000598159.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 117,
"cds_start": 155,
"cds_end": null,
"cds_length": 354,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928100.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Asp73Gly",
"transcript": "ENST00000417876.1",
"protein_id": "ENSP00000401429.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 111,
"cds_start": 218,
"cds_end": null,
"cds_length": 336,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417876.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.882+81A>G",
"hgvs_p": null,
"transcript": "ENST00000928098.1",
"protein_id": "ENSP00000598157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928098.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.802-181A>G",
"hgvs_p": null,
"transcript": "ENST00000928090.1",
"protein_id": "ENSP00000598149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000928090.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.802-181A>G",
"hgvs_p": null,
"transcript": "ENST00000928092.1",
"protein_id": "ENSP00000598151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928092.1"
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.676-181A>G",
"hgvs_p": null,
"transcript": "ENST00000928102.1",
"protein_id": "ENSP00000598161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "n.690A>G",
"hgvs_p": null,
"transcript": "ENST00000479307.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479307.5"
}
],
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"dbsnp": "rs774423112",
"frequency_reference_population": 0.000008898405,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000088984,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11277219653129578,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.1126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.226,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002916.5",
"gene_symbol": "RFC4",
"hgnc_id": 9972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Asp298Gly"
}
],
"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
}