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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: 3-184140499-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184140499&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184140499,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003907.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu",
"transcript": "NM_003907.3",
"protein_id": "NP_003898.2",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 721,
"cds_start": 925,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648915.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003907.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu",
"transcript": "ENST00000648915.2",
"protein_id": "ENSP00000497160.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 721,
"cds_start": 925,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003907.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648915.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "n.1019G>C",
"hgvs_p": null,
"transcript": "ENST00000481054.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000481054.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Val317Leu",
"transcript": "ENST00000647909.1",
"protein_id": "ENSP00000498164.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 729,
"cds_start": 949,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647909.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu",
"transcript": "ENST00000896966.1",
"protein_id": "ENSP00000567025.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 727,
"cds_start": 925,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896966.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu",
"transcript": "ENST00000896962.1",
"protein_id": "ENSP00000567021.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 719,
"cds_start": 925,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896962.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu",
"transcript": "ENST00000896969.1",
"protein_id": "ENSP00000567028.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 718,
"cds_start": 925,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896969.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu",
"transcript": "ENST00000950217.1",
"protein_id": "ENSP00000620276.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 716,
"cds_start": 925,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950217.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.847G>C",
"hgvs_p": "p.Val283Leu",
"transcript": "ENST00000896965.1",
"protein_id": "ENSP00000567023.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 695,
"cds_start": 847,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896965.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.844G>C",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000896963.1",
"protein_id": "ENSP00000567022.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 694,
"cds_start": 844,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896963.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu",
"transcript": "ENST00000926646.1",
"protein_id": "ENSP00000596705.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 692,
"cds_start": 925,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926646.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu",
"transcript": "ENST00000926648.1",
"protein_id": "ENSP00000596707.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 684,
"cds_start": 925,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926648.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Val247Leu",
"transcript": "ENST00000950218.1",
"protein_id": "ENSP00000620277.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 659,
"cds_start": 739,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950218.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu",
"transcript": "XM_047449148.1",
"protein_id": "XP_047305104.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 530,
"cds_start": 925,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449148.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.175G>C",
"hgvs_p": "p.Val59Leu",
"transcript": "XM_011513265.1",
"protein_id": "XP_011511567.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 471,
"cds_start": 175,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513265.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Val30Leu",
"transcript": "XM_011513266.4",
"protein_id": "XP_011511568.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 442,
"cds_start": 88,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513266.4"
},
{
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.907+278G>C",
"hgvs_p": null,
"transcript": "ENST00000896968.1",
"protein_id": "ENSP00000567027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896968.1"
},
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.766-1422G>C",
"hgvs_p": null,
"transcript": "ENST00000950216.1",
"protein_id": "ENSP00000620275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950216.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.196-1738G>C",
"hgvs_p": null,
"transcript": "ENST00000926649.1",
"protein_id": "ENSP00000596708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926649.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.37-1738G>C",
"hgvs_p": null,
"transcript": "ENST00000926647.1",
"protein_id": "ENSP00000596706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"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": "ENST00000926647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "n.948G>C",
"hgvs_p": null,
"transcript": "ENST00000465218.3",
"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": "retained_intron",
"feature": "ENST00000465218.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "n.1168G>C",
"hgvs_p": null,
"transcript": "ENST00000468748.7",
"protein_id": null,
"transcript_support_level": 4,
"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,
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"biotype": "pseudogene",
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],
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"dbsnp": "rs113994061",
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"allele_count_reference_population": 6,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9793750643730164,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.678,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4671,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.607,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_003907.3",
"gene_symbol": "EIF2B5",
"hgnc_id": 3261,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Val309Leu"
},
{
"score": 8,
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"pathogenic_score": 8,
"criteria": [
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"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000723636.1",
"gene_symbol": "EIF2B5-DT",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.116+401C>G",
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}
],
"clinvar_disease": "Leukoencephalopathy with vanishing white matter 5,Vanishing white matter disease",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1 O:1",
"phenotype_combined": "Vanishing white matter disease|Leukoencephalopathy with vanishing white matter 5",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}