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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: 2-232567159-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232567159&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232567159,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004846.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Phe",
"transcript": "NM_004846.4",
"protein_id": "NP_004837.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 245,
"cds_start": 610,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258416.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004846.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Phe",
"transcript": "ENST00000258416.8",
"protein_id": "ENSP00000258416.3",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 245,
"cds_start": 610,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004846.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258416.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Phe",
"transcript": "ENST00000409098.5",
"protein_id": "ENSP00000386996.1",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 234,
"cds_start": 610,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409098.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Leu201Phe",
"transcript": "ENST00000931066.1",
"protein_id": "ENSP00000601125.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 242,
"cds_start": 601,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931066.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "NM_001330202.2",
"protein_id": "NP_001317131.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 240,
"cds_start": 595,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330202.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Phe",
"transcript": "NM_001282958.2",
"protein_id": "NP_001269887.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 236,
"cds_start": 610,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282958.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Phe",
"transcript": "ENST00000409514.5",
"protein_id": "ENSP00000387336.1",
"transcript_support_level": 5,
"aa_start": 204,
"aa_end": null,
"aa_length": 236,
"cds_start": 610,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409514.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Phe",
"transcript": "NM_001276336.2",
"protein_id": "NP_001263265.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 234,
"cds_start": 610,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276336.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Phe",
"transcript": "ENST00000409495.6",
"protein_id": "ENSP00000386876.1",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 233,
"cds_start": 610,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409495.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Leu180Phe",
"transcript": "ENST00000931067.1",
"protein_id": "ENSP00000601126.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 221,
"cds_start": 538,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931067.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000454501.1",
"protein_id": "ENSP00000390904.1",
"transcript_support_level": 3,
"aa_start": 199,
"aa_end": null,
"aa_length": 212,
"cds_start": 595,
"cds_end": null,
"cds_length": 641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454501.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Leu169Phe",
"transcript": "ENST00000868568.1",
"protein_id": "ENSP00000538627.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 210,
"cds_start": 505,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868568.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Leu159Phe",
"transcript": "NM_001330201.2",
"protein_id": "NP_001317130.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 200,
"cds_start": 475,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330201.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Leu159Phe",
"transcript": "ENST00000409322.5",
"protein_id": "ENSP00000386424.1",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 200,
"cds_start": 475,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409322.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Leu159Phe",
"transcript": "NM_001330203.2",
"protein_id": "NP_001317132.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 191,
"cds_start": 475,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330203.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Leu159Phe",
"transcript": "ENST00000687222.1",
"protein_id": "ENSP00000508671.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 191,
"cds_start": 475,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687222.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Leu159Phe",
"transcript": "NM_001276337.2",
"protein_id": "NP_001263266.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 189,
"cds_start": 475,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276337.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Leu159Phe",
"transcript": "ENST00000409394.5",
"protein_id": "ENSP00000386983.1",
"transcript_support_level": 3,
"aa_start": 159,
"aa_end": null,
"aa_length": 189,
"cds_start": 475,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409394.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Leu159Phe",
"transcript": "ENST00000409167.8",
"protein_id": "ENSP00000387328.3",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 188,
"cds_start": 475,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409167.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Leu124Phe",
"transcript": "ENST00000931065.1",
"protein_id": "ENSP00000601124.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 165,
"cds_start": 370,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931065.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Leu104Phe",
"transcript": "ENST00000690794.1",
"protein_id": "ENSP00000509248.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 136,
"cds_start": 310,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "n.120C>T",
"hgvs_p": null,
"transcript": "ENST00000478878.1",
"protein_id": null,
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478878.1"
}
],
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"dbsnp": "rs779332394",
"frequency_reference_population": 0.0000055758696,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547235,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9562093615531921,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.626,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9963,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.726,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004846.4",
"gene_symbol": "EIF4E2",
"hgnc_id": 3293,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Phe"
}
],
"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
}