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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: 2-111772467-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=111772467&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 111772467,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022662.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5593G>A",
"hgvs_p": "p.Asp1865Asn",
"transcript": "NM_022662.4",
"protein_id": "NP_073153.1",
"transcript_support_level": null,
"aa_start": 1865,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5593,
"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": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5593G>A",
"hgvs_p": "p.Asp1865Asn",
"transcript": "ENST00000341068.8",
"protein_id": "ENSP00000339109.3",
"transcript_support_level": 1,
"aa_start": 1865,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5593,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.4195G>A",
"hgvs_p": "p.Asp1399Asn",
"transcript": "ENST00000427997.5",
"protein_id": "ENSP00000396695.1",
"transcript_support_level": 1,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4195,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5635G>A",
"hgvs_p": "p.Asp1879Asn",
"transcript": "ENST00000917121.1",
"protein_id": "ENSP00000587180.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 1958,
"cds_start": 5635,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5635G>A",
"hgvs_p": "p.Asp1879Asn",
"transcript": "ENST00000917126.1",
"protein_id": "ENSP00000587185.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 1958,
"cds_start": 5635,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5605G>A",
"hgvs_p": "p.Asp1869Asn",
"transcript": "ENST00000917124.1",
"protein_id": "ENSP00000587183.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1948,
"cds_start": 5605,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5593G>A",
"hgvs_p": "p.Asp1865Asn",
"transcript": "ENST00000917122.1",
"protein_id": "ENSP00000587181.1",
"transcript_support_level": null,
"aa_start": 1865,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5593,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5593G>A",
"hgvs_p": "p.Asp1865Asn",
"transcript": "ENST00000917123.1",
"protein_id": "ENSP00000587182.1",
"transcript_support_level": null,
"aa_start": 1865,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5593,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5587G>A",
"hgvs_p": "p.Asp1863Asn",
"transcript": "ENST00000917120.1",
"protein_id": "ENSP00000587179.1",
"transcript_support_level": null,
"aa_start": 1863,
"aa_end": null,
"aa_length": 1942,
"cds_start": 5587,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5560G>A",
"hgvs_p": "p.Asp1854Asn",
"transcript": "ENST00000917125.1",
"protein_id": "ENSP00000587184.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1933,
"cds_start": 5560,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5497G>A",
"hgvs_p": "p.Asp1833Asn",
"transcript": "ENST00000917128.1",
"protein_id": "ENSP00000587187.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5497,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5485G>A",
"hgvs_p": "p.Asp1829Asn",
"transcript": "ENST00000917117.1",
"protein_id": "ENSP00000587176.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5485,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5248G>A",
"hgvs_p": "p.Asp1750Asn",
"transcript": "ENST00000917127.1",
"protein_id": "ENSP00000587186.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 1829,
"cds_start": 5248,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5605G>A",
"hgvs_p": "p.Asp1869Asn",
"transcript": "XM_011511633.3",
"protein_id": "XP_011509935.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1948,
"cds_start": 5605,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5605G>A",
"hgvs_p": "p.Asp1869Asn",
"transcript": "XM_017004710.3",
"protein_id": "XP_016860199.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1921,
"cds_start": 5605,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5593G>A",
"hgvs_p": "p.Asp1865Asn",
"transcript": "XM_017004711.2",
"protein_id": "XP_016860200.1",
"transcript_support_level": null,
"aa_start": 1865,
"aa_end": null,
"aa_length": 1917,
"cds_start": 5593,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5311G>A",
"hgvs_p": "p.Asp1771Asn",
"transcript": "XM_011511634.3",
"protein_id": "XP_011509936.1",
"transcript_support_level": null,
"aa_start": 1771,
"aa_end": null,
"aa_length": 1850,
"cds_start": 5311,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "c.5125G>A",
"hgvs_p": "p.Asp1709Asn",
"transcript": "XM_017004713.2",
"protein_id": "XP_016860202.1",
"transcript_support_level": null,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1788,
"cds_start": 5125,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "n.2287G>A",
"hgvs_p": null,
"transcript": "ENST00000462785.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC1",
"gene_hgnc_id": 19988,
"hgvs_c": "n.619G>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": "rs753847050",
"frequency_reference_population": 0.000021250606,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000220779,
"gnomad_genomes_af": 0.0000137694,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0991312563419342,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.1141,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.193,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_022662.4",
"gene_symbol": "ANAPC1",
"hgnc_id": 19988,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5593G>A",
"hgvs_p": "p.Asp1865Asn"
}
],
"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
}