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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: 2-111778702-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=111778702&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ANAPC1",
"hgnc_id": 19988,
"hgvs_c": "c.5358G>A",
"hgvs_p": "p.Met1786Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_022662.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": null,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.6524,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5157092809677124,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "M",
"aa_start": 1786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7762,
"cdna_start": 5634,
"cds_end": null,
"cds_length": 5835,
"cds_start": 5358,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_022662.4",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5358G>A",
"hgvs_p": "p.Met1786Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341068.8",
"protein_coding": true,
"protein_id": "NP_073153.1",
"strand": false,
"transcript": "NM_022662.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "M",
"aa_start": 1786,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7762,
"cdna_start": 5634,
"cds_end": null,
"cds_length": 5835,
"cds_start": 5358,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000341068.8",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5358G>A",
"hgvs_p": "p.Met1786Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022662.4",
"protein_coding": true,
"protein_id": "ENSP00000339109.3",
"strand": false,
"transcript": "ENST00000341068.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "M",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5047,
"cdna_start": 3961,
"cds_end": null,
"cds_length": 4356,
"cds_start": 3960,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000427997.5",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.3960G>A",
"hgvs_p": "p.Met1320Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396695.1",
"strand": false,
"transcript": "ENST00000427997.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1958,
"aa_ref": "M",
"aa_start": 1786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7803,
"cdna_start": 5633,
"cds_end": null,
"cds_length": 5877,
"cds_start": 5358,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000917121.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5358G>A",
"hgvs_p": "p.Met1786Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587180.1",
"strand": false,
"transcript": "ENST00000917121.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1958,
"aa_ref": "M",
"aa_start": 1786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 5714,
"cds_end": null,
"cds_length": 5877,
"cds_start": 5358,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000917126.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5358G>A",
"hgvs_p": "p.Met1786Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587185.1",
"strand": false,
"transcript": "ENST00000917126.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1948,
"aa_ref": "M",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6356,
"cdna_start": 5649,
"cds_end": null,
"cds_length": 5847,
"cds_start": 5370,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000917124.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5370G>A",
"hgvs_p": "p.Met1790Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587183.1",
"strand": false,
"transcript": "ENST00000917124.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "M",
"aa_start": 1786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7848,
"cdna_start": 5720,
"cds_end": null,
"cds_length": 5835,
"cds_start": 5358,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000917122.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5358G>A",
"hgvs_p": "p.Met1786Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587181.1",
"strand": false,
"transcript": "ENST00000917122.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "M",
"aa_start": 1786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7683,
"cdna_start": 5677,
"cds_end": null,
"cds_length": 5835,
"cds_start": 5358,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000917123.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5358G>A",
"hgvs_p": "p.Met1786Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587182.1",
"strand": false,
"transcript": "ENST00000917123.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1942,
"aa_ref": "M",
"aa_start": 1784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7758,
"cdna_start": 5627,
"cds_end": null,
"cds_length": 5829,
"cds_start": 5352,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000917120.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5352G>A",
"hgvs_p": "p.Met1784Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587179.1",
"strand": false,
"transcript": "ENST00000917120.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1933,
"aa_ref": "M",
"aa_start": 1761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6296,
"cdna_start": 5547,
"cds_end": null,
"cds_length": 5802,
"cds_start": 5283,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000917125.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5283G>A",
"hgvs_p": "p.Met1761Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587184.1",
"strand": false,
"transcript": "ENST00000917125.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1912,
"aa_ref": "M",
"aa_start": 1754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6139,
"cdna_start": 5432,
"cds_end": null,
"cds_length": 5739,
"cds_start": 5262,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000917128.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5262G>A",
"hgvs_p": "p.Met1754Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587187.1",
"strand": false,
"transcript": "ENST00000917128.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1908,
"aa_ref": "M",
"aa_start": 1750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7662,
"cdna_start": 5534,
"cds_end": null,
"cds_length": 5727,
"cds_start": 5250,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000917117.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5250G>A",
"hgvs_p": "p.Met1750Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587176.1",
"strand": false,
"transcript": "ENST00000917117.1",
"transcript_support_level": null
},
{
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"aa_length": 1829,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5977,
"cdna_start": 5274,
"cds_end": null,
"cds_length": 5490,
"cds_start": 5013,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000917127.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5013G>A",
"hgvs_p": "p.Met1671Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587186.1",
"strand": false,
"transcript": "ENST00000917127.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1948,
"aa_ref": "M",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7774,
"cdna_start": 5646,
"cds_end": null,
"cds_length": 5847,
"cds_start": 5370,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_011511633.3",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5370G>A",
"hgvs_p": "p.Met1790Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509935.1",
"strand": false,
"transcript": "XM_011511633.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 1921,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6772,
"cdna_start": 5646,
"cds_end": null,
"cds_length": 5766,
"cds_start": 5370,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017004710.3",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5370G>A",
"hgvs_p": "p.Met1790Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860199.1",
"strand": false,
"transcript": "XM_017004710.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1917,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6760,
"cdna_start": 5634,
"cds_end": null,
"cds_length": 5754,
"cds_start": 5358,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017004711.2",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5358G>A",
"hgvs_p": "p.Met1786Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860200.1",
"strand": false,
"transcript": "XM_017004711.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1850,
"aa_ref": "M",
"aa_start": 1692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7894,
"cdna_start": 5766,
"cds_end": null,
"cds_length": 5553,
"cds_start": 5076,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_011511634.3",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.5076G>A",
"hgvs_p": "p.Met1692Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509936.1",
"strand": false,
"transcript": "XM_011511634.3",
"transcript_support_level": null
},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 5714,
"cds_end": null,
"cds_length": 5367,
"cds_start": 4890,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017004713.2",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "c.4890G>A",
"hgvs_p": "p.Met1630Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860202.1",
"strand": false,
"transcript": "XM_017004713.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000462785.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "n.2052G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000462785.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643447.1",
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"hgvs_c": "n.384G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494863.1",
"strand": false,
"transcript": "ENST00000643447.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs745357859",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 19988,
"gene_symbol": "ANAPC1",
"gnomad_exomes_ac": 17,
"gnomad_exomes_af": 0.0000116594,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 0,
"gnomad_genomes_af": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": null,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.34,
"pos": 111778702,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.521,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_022662.4"
}
]
}