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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: 2-218266547-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218266547&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AAMP",
"hgnc_id": 18,
"hgvs_c": "c.578G>C",
"hgvs_p": "p.Gly193Ala",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001302545.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 184,
"alphamissense_prediction": null,
"alphamissense_score": 0.6874,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"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": "Pathogenic",
"computational_score_selected": 0.7895992994308472,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 626,
"cds_end": null,
"cds_length": 1305,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001087.5",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.575G>C",
"hgvs_p": "p.Gly192Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000248450.9",
"protein_coding": true,
"protein_id": "NP_001078.2",
"strand": false,
"transcript": "NM_001087.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 626,
"cds_end": null,
"cds_length": 1305,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000248450.9",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.575G>C",
"hgvs_p": "p.Gly192Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001087.5",
"protein_coding": true,
"protein_id": "ENSP00000248450.4",
"strand": false,
"transcript": "ENST00000248450.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 435,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1308,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000444053.5",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.578G>C",
"hgvs_p": "p.Gly193Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403343.1",
"strand": false,
"transcript": "ENST00000444053.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 435,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1308,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001302545.2",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.578G>C",
"hgvs_p": "p.Gly193Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289474.1",
"strand": false,
"transcript": "NM_001302545.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 431,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1296,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000896972.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.566G>C",
"hgvs_p": "p.Gly189Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567031.1",
"strand": false,
"transcript": "ENST00000896972.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 429,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1290,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912377.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.575G>C",
"hgvs_p": "p.Gly192Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582436.1",
"strand": false,
"transcript": "ENST00000912377.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 428,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1287,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952048.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.578G>C",
"hgvs_p": "p.Gly193Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622107.1",
"strand": false,
"transcript": "ENST00000952048.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 421,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1266,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952045.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.575G>C",
"hgvs_p": "p.Gly192Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622104.1",
"strand": false,
"transcript": "ENST00000952045.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 419,
"aa_ref": "G",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1260,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952043.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Gly177Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622102.1",
"strand": false,
"transcript": "ENST00000952043.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 587,
"cds_end": null,
"cds_length": 1257,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952044.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Gly176Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622103.1",
"strand": false,
"transcript": "ENST00000952044.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 415,
"aa_ref": "G",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1248,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000420660.5",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.518G>C",
"hgvs_p": "p.Gly173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416394.1",
"strand": false,
"transcript": "ENST00000420660.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 407,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1224,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952047.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.578G>C",
"hgvs_p": "p.Gly193Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622106.1",
"strand": false,
"transcript": "ENST00000952047.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 406,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1221,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000896971.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.575G>C",
"hgvs_p": "p.Gly192Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567030.1",
"strand": false,
"transcript": "ENST00000896971.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1185,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896973.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Gly152Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567032.1",
"strand": false,
"transcript": "ENST00000896973.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 383,
"aa_ref": "G",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 466,
"cds_end": null,
"cds_length": 1152,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952046.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.422G>C",
"hgvs_p": "p.Gly141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622105.1",
"strand": false,
"transcript": "ENST00000952046.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1110,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912378.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.575G>C",
"hgvs_p": "p.Gly192Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582437.1",
"strand": false,
"transcript": "ENST00000912378.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 199,
"aa_ref": "G",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": 506,
"cds_end": null,
"cds_length": 602,
"cds_start": 437,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000447885.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Gly146Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393818.1",
"strand": false,
"transcript": "ENST00000447885.1",
"transcript_support_level": 5
},
{
"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": 1016,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000465442.1",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "n.298G>C",
"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": "ENST00000465442.1",
"transcript_support_level": 2
},
{
"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": 2270,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000475678.5",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "n.577G>C",
"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": "ENST00000475678.5",
"transcript_support_level": 2
},
{
"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": 1833,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000489767.5",
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"hgvs_c": "n.605G>C",
"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": "ENST00000489767.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs367763639",
"effect": "missense_variant",
"frequency_reference_population": 0.000114026785,
"gene_hgnc_id": 18,
"gene_symbol": "AAMP",
"gnomad_exomes_ac": 163,
"gnomad_exomes_af": 0.00011153,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 21,
"gnomad_genomes_af": 0.000138004,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.825,
"pos": 218266547,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.494,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07000000029802322,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001302545.2"
}
]
}