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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: 1-8013781-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=8013781&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 8013781,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018948.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "NM_018948.4",
"protein_id": "NP_061821.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000377482.10",
"protein_id": "ENSP00000366702.5",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000857115.1",
"protein_id": "ENSP00000527174.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000857116.1",
"protein_id": "ENSP00000527175.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000857117.1",
"protein_id": "ENSP00000527176.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000857119.1",
"protein_id": "ENSP00000527178.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000857121.1",
"protein_id": "ENSP00000527180.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000857122.1",
"protein_id": "ENSP00000527181.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000857123.1",
"protein_id": "ENSP00000527182.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000857124.1",
"protein_id": "ENSP00000527183.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000963988.1",
"protein_id": "ENSP00000634047.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "ENST00000963989.1",
"protein_id": "ENSP00000634048.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.491C>T",
"hgvs_p": "p.Ser164Phe",
"transcript": "ENST00000857118.1",
"protein_id": "ENSP00000527177.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 353,
"cds_start": 491,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.350C>T",
"hgvs_p": "p.Ser117Phe",
"transcript": "ENST00000857120.1",
"protein_id": "ENSP00000527179.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 306,
"cds_start": 350,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.818C>T",
"hgvs_p": "p.Ser273Phe",
"transcript": "XM_047422698.1",
"protein_id": "XP_047278654.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 462,
"cds_start": 818,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.665C>T",
"hgvs_p": "p.Ser222Phe",
"transcript": "XM_005263477.4",
"protein_id": "XP_005263534.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 411,
"cds_start": 665,
"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": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.593C>T",
"hgvs_p": "p.Ser198Phe",
"transcript": "XM_047422701.1",
"protein_id": "XP_047278657.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 387,
"cds_start": 593,
"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.*1489C>T",
"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.*516C>T",
"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+1714C>T",
"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"
}
],
"gene_symbol": "ERRFI1",
"gene_hgnc_id": 18185,
"dbsnp": "rs138692060",
"frequency_reference_population": 0.000011771557,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": 0.0000262867,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4104178249835968,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.2666,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.752,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_018948.4",
"gene_symbol": "ERRFI1",
"hgnc_id": 18185,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ser273Phe"
}
],
"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
}