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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: 3-184142033-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184142033&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184142033,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003907.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "NM_003907.3",
"protein_id": "NP_003898.2",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 721,
"cds_start": 1265,
"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": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000648915.2",
"protein_id": "ENSP00000497160.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 721,
"cds_start": 1265,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "n.1359G>A",
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"transcript": "ENST00000647909.1",
"protein_id": "ENSP00000498164.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 729,
"cds_start": 1289,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000896966.1",
"protein_id": "ENSP00000567025.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 727,
"cds_start": 1265,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000896962.1",
"protein_id": "ENSP00000567021.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 719,
"cds_start": 1265,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000896969.1",
"protein_id": "ENSP00000567028.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 718,
"cds_start": 1265,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000950217.1",
"protein_id": "ENSP00000620276.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 716,
"cds_start": 1265,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "ENST00000896965.1",
"protein_id": "ENSP00000567023.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 695,
"cds_start": 1187,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"transcript": "ENST00000896963.1",
"protein_id": "ENSP00000567022.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 694,
"cds_start": 1184,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000926646.1",
"protein_id": "ENSP00000596705.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 692,
"cds_start": 1265,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385Gln",
"transcript": "ENST00000926648.1",
"protein_id": "ENSP00000596707.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 684,
"cds_start": 1154,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1079G>A",
"hgvs_p": "p.Arg360Gln",
"transcript": "ENST00000950218.1",
"protein_id": "ENSP00000620277.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 659,
"cds_start": 1079,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1016G>A",
"hgvs_p": "p.Arg339Gln",
"transcript": "ENST00000896968.1",
"protein_id": "ENSP00000567027.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 638,
"cds_start": 1016,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000950216.1",
"protein_id": "ENSP00000620275.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 592,
"cds_start": 878,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "XM_047449148.1",
"protein_id": "XP_047305104.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 530,
"cds_start": 1265,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"transcript": "XM_011513265.1",
"protein_id": "XP_011511567.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 471,
"cds_start": 515,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Gln",
"transcript": "XM_011513266.4",
"protein_id": "XP_011511568.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 442,
"cds_start": 428,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.196-204G>A",
"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.37-204G>A",
"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": 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.1288G>A",
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "n.1508G>A",
"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,
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{
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{
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"biotype": "retained_intron",
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],
"gene_symbol": "EIF2B5",
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"dbsnp": "rs372497906",
"frequency_reference_population": 0.00005452144,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000499356,
"gnomad_genomes_af": 0.0000985804,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.045739561319351196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
"alphamissense_score": 0.0626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.792,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003907.3",
"gene_symbol": "EIF2B5",
"hgnc_id": 3261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000723636.1",
"gene_symbol": "EIF2B5-DT",
"hgnc_id": 55202,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.61-1078C>T",
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}
],
"clinvar_disease": "Inborn genetic diseases,Vanishing white matter disease,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "Vanishing white matter disease|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}