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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: 3-186784614-GTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186784614&ref=GTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 186784614,
"ref": "GTC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001967.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.131_132delTC",
"hgvs_p": "p.Leu44fs",
"transcript": "NM_001967.4",
"protein_id": "NP_001958.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 407,
"cds_start": 131,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323963.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001967.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.131_132delTC",
"hgvs_p": "p.Leu44fs",
"transcript": "ENST00000323963.10",
"protein_id": "ENSP00000326381.5",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 407,
"cds_start": 131,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001967.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323963.10"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000440191.6",
"protein_id": "ENSP00000398370.2",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 408,
"cds_start": 134,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440191.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "n.131_132delTC",
"hgvs_p": null,
"transcript": "ENST00000426808.5",
"protein_id": "ENSP00000392686.1",
"transcript_support_level": 1,
"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": "ENST00000426808.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "n.134_135delTC",
"hgvs_p": null,
"transcript": "ENST00000443963.5",
"protein_id": "ENSP00000402313.1",
"transcript_support_level": 1,
"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": "ENST00000443963.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000865630.1",
"protein_id": "ENSP00000535689.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 405,
"cds_start": 134,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865630.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000957080.1",
"protein_id": "ENSP00000627139.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 405,
"cds_start": 134,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957080.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000865627.1",
"protein_id": "ENSP00000535686.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 402,
"cds_start": 134,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865627.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.116_117delTC",
"hgvs_p": "p.Leu39fs",
"transcript": "ENST00000928252.1",
"protein_id": "ENSP00000598311.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 402,
"cds_start": 116,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928252.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000928251.1",
"protein_id": "ENSP00000598310.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 401,
"cds_start": 134,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928251.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000957081.1",
"protein_id": "ENSP00000627140.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 401,
"cds_start": 134,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957081.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000865628.1",
"protein_id": "ENSP00000535687.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 378,
"cds_start": 134,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865628.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000928249.1",
"protein_id": "ENSP00000598308.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 360,
"cds_start": 134,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928249.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000865629.1",
"protein_id": "ENSP00000535688.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 305,
"cds_start": 134,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865629.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000928247.1",
"protein_id": "ENSP00000598306.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 299,
"cds_start": 134,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928247.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.134_135delTC",
"hgvs_p": "p.Leu45fs",
"transcript": "ENST00000928248.1",
"protein_id": "ENSP00000598307.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 275,
"cds_start": 134,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928248.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.80_81delTC",
"hgvs_p": "p.Leu27fs",
"transcript": "ENST00000498746.1",
"protein_id": "ENSP00000462571.1",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 108,
"cds_start": 80,
"cds_end": null,
"cds_length": 328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498746.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.131_132delTC",
"hgvs_p": "p.Leu44fs",
"transcript": "ENST00000445596.5",
"protein_id": "ENSP00000415878.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 97,
"cds_start": 131,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445596.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.131_132delTC",
"hgvs_p": "p.Leu44fs",
"transcript": "ENST00000441007.5",
"protein_id": "ENSP00000407504.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 56,
"cds_start": 131,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441007.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.30-467_30-466delTC",
"hgvs_p": null,
"transcript": "ENST00000957082.1",
"protein_id": "ENSP00000627141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957082.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.29+980_29+981delTC",
"hgvs_p": null,
"transcript": "ENST00000928250.1",
"protein_id": "ENSP00000598309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928250.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "n.131_132delTC",
"hgvs_p": null,
"transcript": "ENST00000425053.5",
"protein_id": "ENSP00000413529.1",
"transcript_support_level": 5,
"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,
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],
"gene_symbol": "EIF4A2",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.776,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001967.4",
"gene_symbol": "EIF4A2",
"hgnc_id": 3284,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.131_132delTC",
"hgvs_p": "p.Leu44fs"
},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_002587.1",
"gene_symbol": "SNORD2",
"hgnc_id": 32678,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.-181_-180delTC",
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}
],
"clinvar_disease": "Neurodevelopmental disorder,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Neurodevelopmental disorder|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}