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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: 1-8013869-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=8013869&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 8013869,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_018948.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "NM_018948.4",
"protein_id": "NP_061821.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377482.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018948.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000377482.10",
"protein_id": "ENSP00000366702.5",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018948.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377482.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000857115.1",
"protein_id": "ENSP00000527174.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857115.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000857116.1",
"protein_id": "ENSP00000527175.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857116.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000857117.1",
"protein_id": "ENSP00000527176.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857117.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000857119.1",
"protein_id": "ENSP00000527178.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857119.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000857121.1",
"protein_id": "ENSP00000527180.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857121.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000857122.1",
"protein_id": "ENSP00000527181.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857122.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000857123.1",
"protein_id": "ENSP00000527182.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857123.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000857124.1",
"protein_id": "ENSP00000527183.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857124.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000963988.1",
"protein_id": "ENSP00000634047.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963988.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000963989.1",
"protein_id": "ENSP00000634048.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963989.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000857118.1",
"protein_id": "ENSP00000527177.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 353,
"cds_start": 403,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857118.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.262C>A",
"hgvs_p": "p.Arg88Arg",
"transcript": "ENST00000857120.1",
"protein_id": "ENSP00000527179.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 306,
"cds_start": 262,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857120.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "XM_047422698.1",
"protein_id": "XP_047278654.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 462,
"cds_start": 730,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422698.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.577C>A",
"hgvs_p": "p.Arg193Arg",
"transcript": "XM_005263477.4",
"protein_id": "XP_005263534.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 411,
"cds_start": 577,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263477.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.505C>A",
"hgvs_p": "p.Arg169Arg",
"transcript": "XM_047422701.1",
"protein_id": "XP_047278657.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 387,
"cds_start": 505,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.*1401C>A",
"hgvs_p": null,
"transcript": "ENST00000467067.1",
"protein_id": "ENSP00000465100.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.*428C>A",
"hgvs_p": null,
"transcript": "ENST00000469499.5",
"protein_id": "ENSP00000466454.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469499.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "c.125+1626C>A",
"hgvs_p": null,
"transcript": "ENST00000474874.5",
"protein_id": "ENSP00000466958.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 53,
"cds_start": null,
"cds_end": null,
"cds_length": 162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474874.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"hgvs_c": "n.*587C>A",
"hgvs_p": null,
"transcript": "ENST00000487559.1",
"protein_id": "ENSP00000467030.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487559.1"
}
],
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"dbsnp": "rs35110052",
"frequency_reference_population": 0.004322106,
"hom_count_reference_population": 218,
"allele_count_reference_population": 6976,
"gnomad_exomes_af": 0.00247977,
"gnomad_genomes_af": 0.0220177,
"gnomad_exomes_ac": 3625,
"gnomad_genomes_ac": 3351,
"gnomad_exomes_homalt": 96,
"gnomad_genomes_homalt": 122,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.521,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_018948.4",
"gene_symbol": "ERRFI1",
"hgnc_id": 18185,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}