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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: 3-186640577-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186640577&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 186640577,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000265029.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ser39Ser",
"transcript": "NM_014375.3",
"protein_id": "NP_055190.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 382,
"cds_start": 117,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": "ENST00000265029.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000265029.8",
"protein_id": "ENSP00000265029.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 382,
"cds_start": 117,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": "NM_014375.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000450521.5",
"protein_id": "ENSP00000404288.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 382,
"cds_start": 117,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000382136.3",
"protein_id": "ENSP00000371571.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 345,
"cds_start": 117,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 119,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000382134.7",
"protein_id": "ENSP00000371569.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 317,
"cds_start": 117,
"cds_end": null,
"cds_length": 954,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "n.117A>C",
"hgvs_p": null,
"transcript": "ENST00000435961.5",
"protein_id": "ENSP00000393851.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ser39Ser",
"transcript": "NM_001375587.2",
"protein_id": "NP_001362516.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 382,
"cds_start": 117,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ser39Ser",
"transcript": "NM_001308077.4",
"protein_id": "NP_001295006.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 345,
"cds_start": 117,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ser39Ser",
"transcript": "NM_001308079.4",
"protein_id": "NP_001295008.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 317,
"cds_start": 117,
"cds_end": null,
"cds_length": 954,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "n.117A>C",
"hgvs_p": null,
"transcript": "ENST00000420570.1",
"protein_id": "ENSP00000405438.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "n.137A>C",
"hgvs_p": null,
"transcript": "ENST00000488561.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-203A>C",
"hgvs_p": null,
"transcript": "NM_001375588.2",
"protein_id": "NP_001362517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-240A>C",
"hgvs_p": null,
"transcript": "NM_001375590.2",
"protein_id": "NP_001362519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-244A>C",
"hgvs_p": null,
"transcript": "NM_001375591.2",
"protein_id": "NP_001362520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-129A>C",
"hgvs_p": null,
"transcript": "NM_001375592.2",
"protein_id": "NP_001362521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-20-4174A>C",
"hgvs_p": null,
"transcript": "NM_001375589.2",
"protein_id": "NP_001362518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-20-4174A>C",
"hgvs_p": null,
"transcript": "ENST00000431018.5",
"protein_id": "ENSP00000396581.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": -4,
"cds_end": null,
"cds_length": 311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HRG-AS1",
"gene_hgnc_id": 55915,
"hgvs_c": "n.388+1377T>G",
"hgvs_p": null,
"transcript": "ENST00000625386.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HRG-AS1",
"gene_hgnc_id": 55915,
"hgvs_c": "n.389+1377T>G",
"hgvs_p": null,
"transcript": "ENST00000628505.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HRG-AS1",
"gene_hgnc_id": 55915,
"hgvs_c": "n.239-60611T>G",
"hgvs_p": null,
"transcript": "ENST00000630178.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"dbsnp": "rs1047115",
"frequency_reference_population": 0.124367565,
"hom_count_reference_population": 12902,
"allele_count_reference_population": 200630,
"gnomad_exomes_af": 0.123863,
"gnomad_genomes_af": 0.129215,
"gnomad_exomes_ac": 180965,
"gnomad_genomes_ac": 19665,
"gnomad_exomes_homalt": 11605,
"gnomad_genomes_homalt": 1297,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.362,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000265029.8",
"gene_symbol": "FETUB",
"hgnc_id": 3658,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ser39Ser"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000625386.2",
"gene_symbol": "HRG-AS1",
"hgnc_id": 55915,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.388+1377T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}