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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: 17-57979243-T-TTGTTGTTGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=57979243&ref=T&alt=TTGTTGTTGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 57979243,
"ref": "T",
"alt": "TTGTTGTTGC",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_007146.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1046_1047insGCAACAACA",
"hgvs_p": "p.Gln347_Gln349dup",
"transcript": "NM_007146.3",
"protein_id": "NP_009077.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 521,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000581208.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007146.3"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1046_1047insGCAACAACA",
"hgvs_p": "p.Gln347_Gln349dup",
"transcript": "ENST00000581208.2",
"protein_id": "ENSP00000462337.1",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 521,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007146.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581208.2"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.500_501insGCAACAACA",
"hgvs_p": "p.Gln165_Gln167dup",
"transcript": "ENST00000258963.7",
"protein_id": "ENSP00000258963.3",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 339,
"cds_start": 500,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258963.7"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1187_1188insGCAACAACA",
"hgvs_p": "p.Gln394_Gln396dup",
"transcript": "ENST00000905172.1",
"protein_id": "ENSP00000575231.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 568,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905172.1"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1169_1170insGCAACAACA",
"hgvs_p": "p.Gln388_Gln390dup",
"transcript": "ENST00000905170.1",
"protein_id": "ENSP00000575229.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 562,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905170.1"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1046_1047insGCAACAACA",
"hgvs_p": "p.Gln347_Gln349dup",
"transcript": "ENST00000905171.1",
"protein_id": "ENSP00000575230.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 561,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905171.1"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1046_1047insGCAACAACA",
"hgvs_p": "p.Gln347_Gln349dup",
"transcript": "ENST00000911413.1",
"protein_id": "ENSP00000581472.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 520,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911413.1"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1019_1020insGCAACAACA",
"hgvs_p": "p.Gln338_Gln340dup",
"transcript": "NM_001330393.2",
"protein_id": "NP_001317322.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 512,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330393.2"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1019_1020insGCAACAACA",
"hgvs_p": "p.Gln338_Gln340dup",
"transcript": "ENST00000584396.5",
"protein_id": "ENSP00000464687.1",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 512,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584396.5"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1064_1065insGCAACAACA",
"hgvs_p": "p.Gln353_Gln355dup",
"transcript": "XM_005257643.2",
"protein_id": "XP_005257700.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 527,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257643.2"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1037_1038insGCAACAACA",
"hgvs_p": "p.Gln344_Gln346dup",
"transcript": "XM_047436662.1",
"protein_id": "XP_047292618.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 518,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436662.1"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1037_1038insGCAACAACA",
"hgvs_p": "p.Gln344_Gln346dup",
"transcript": "XM_047436664.1",
"protein_id": "XP_047292620.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 518,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436664.1"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1019_1020insGCAACAACA",
"hgvs_p": "p.Gln338_Gln340dup",
"transcript": "XM_017025018.2",
"protein_id": "XP_016880507.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 512,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025018.2"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.1019_1020insGCAACAACA",
"hgvs_p": "p.Gln338_Gln340dup",
"transcript": "XM_047436665.1",
"protein_id": "XP_047292621.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 512,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436665.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"hgvs_c": "c.976+1359_976+1360insGCAACAACA",
"hgvs_p": null,
"transcript": "ENST00000960055.1",
"protein_id": "ENSP00000630114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960055.1"
}
],
"gene_symbol": "VEZF1",
"gene_hgnc_id": 12949,
"dbsnp": "rs914850486",
"frequency_reference_population": 0.000015210829,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000152108,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.405,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "BP3,BP6_Moderate",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007146.3",
"gene_symbol": "VEZF1",
"hgnc_id": 12949,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1046_1047insGCAACAACA",
"hgvs_p": "p.Gln347_Gln349dup"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}