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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: 2-111784385-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=111784385&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 111784385,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022662.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4933G>A",
"hgvs_p": "p.Glu1645Lys",
"transcript": "NM_022662.4",
"protein_id": "NP_073153.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1944,
"cds_start": 4933,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341068.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022662.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4933G>A",
"hgvs_p": "p.Glu1645Lys",
"transcript": "ENST00000341068.8",
"protein_id": "ENSP00000339109.3",
"transcript_support_level": 1,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1944,
"cds_start": 4933,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022662.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341068.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.3535G>A",
"hgvs_p": "p.Glu1179Lys",
"transcript": "ENST00000427997.5",
"protein_id": "ENSP00000396695.1",
"transcript_support_level": 1,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3535,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427997.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4933G>A",
"hgvs_p": "p.Glu1645Lys",
"transcript": "ENST00000917121.1",
"protein_id": "ENSP00000587180.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1958,
"cds_start": 4933,
"cds_end": null,
"cds_length": 5877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917121.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4933G>A",
"hgvs_p": "p.Glu1645Lys",
"transcript": "ENST00000917126.1",
"protein_id": "ENSP00000587185.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1958,
"cds_start": 4933,
"cds_end": null,
"cds_length": 5877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917126.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4945G>A",
"hgvs_p": "p.Glu1649Lys",
"transcript": "ENST00000917124.1",
"protein_id": "ENSP00000587183.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 1948,
"cds_start": 4945,
"cds_end": null,
"cds_length": 5847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917124.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4933G>A",
"hgvs_p": "p.Glu1645Lys",
"transcript": "ENST00000917122.1",
"protein_id": "ENSP00000587181.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1944,
"cds_start": 4933,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917122.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4933G>A",
"hgvs_p": "p.Glu1645Lys",
"transcript": "ENST00000917123.1",
"protein_id": "ENSP00000587182.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1944,
"cds_start": 4933,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917123.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4933G>A",
"hgvs_p": "p.Glu1645Lys",
"transcript": "ENST00000917120.1",
"protein_id": "ENSP00000587179.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1942,
"cds_start": 4933,
"cds_end": null,
"cds_length": 5829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917120.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4858G>A",
"hgvs_p": "p.Glu1620Lys",
"transcript": "ENST00000917125.1",
"protein_id": "ENSP00000587184.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1933,
"cds_start": 4858,
"cds_end": null,
"cds_length": 5802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917125.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4837G>A",
"hgvs_p": "p.Glu1613Lys",
"transcript": "ENST00000917128.1",
"protein_id": "ENSP00000587187.1",
"transcript_support_level": null,
"aa_start": 1613,
"aa_end": null,
"aa_length": 1912,
"cds_start": 4837,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917128.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4825G>A",
"hgvs_p": "p.Glu1609Lys",
"transcript": "ENST00000917117.1",
"protein_id": "ENSP00000587176.1",
"transcript_support_level": null,
"aa_start": 1609,
"aa_end": null,
"aa_length": 1908,
"cds_start": 4825,
"cds_end": null,
"cds_length": 5727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917117.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4588G>A",
"hgvs_p": "p.Glu1530Lys",
"transcript": "ENST00000917127.1",
"protein_id": "ENSP00000587186.1",
"transcript_support_level": null,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1829,
"cds_start": 4588,
"cds_end": null,
"cds_length": 5490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917127.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4945G>A",
"hgvs_p": "p.Glu1649Lys",
"transcript": "XM_011511633.3",
"protein_id": "XP_011509935.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 1948,
"cds_start": 4945,
"cds_end": null,
"cds_length": 5847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511633.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4945G>A",
"hgvs_p": "p.Glu1649Lys",
"transcript": "XM_017004710.3",
"protein_id": "XP_016860199.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 1921,
"cds_start": 4945,
"cds_end": null,
"cds_length": 5766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004710.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4933G>A",
"hgvs_p": "p.Glu1645Lys",
"transcript": "XM_017004711.2",
"protein_id": "XP_016860200.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1917,
"cds_start": 4933,
"cds_end": null,
"cds_length": 5754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004711.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4651G>A",
"hgvs_p": "p.Glu1551Lys",
"transcript": "XM_011511634.3",
"protein_id": "XP_011509936.1",
"transcript_support_level": null,
"aa_start": 1551,
"aa_end": null,
"aa_length": 1850,
"cds_start": 4651,
"cds_end": null,
"cds_length": 5553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511634.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4465G>A",
"hgvs_p": "p.Glu1489Lys",
"transcript": "XM_017004713.2",
"protein_id": "XP_016860202.1",
"transcript_support_level": null,
"aa_start": 1489,
"aa_end": null,
"aa_length": 1788,
"cds_start": 4465,
"cds_end": null,
"cds_length": 5367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004713.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "n.-42G>A",
"hgvs_p": null,
"transcript": "ENST00000643447.1",
"protein_id": "ENSP00000494863.1",
"transcript_support_level": null,
"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": "ENST00000643447.1"
}
],
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"dbsnp": "rs767964702",
"frequency_reference_population": 0.000019730353,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000150521,
"gnomad_genomes_af": 0.0000197304,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03376176953315735,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.0878,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.129,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_022662.4",
"gene_symbol": "ANAPC1",
"hgnc_id": 19988,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4933G>A",
"hgvs_p": "p.Glu1645Lys"
}
],
"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
}