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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: 3-184135409-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184135409&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184135409,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003907.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "NM_003907.3",
"protein_id": "NP_003898.2",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 721,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000648915.2",
"protein_id": "ENSP00000497160.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 721,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000432569.2",
"protein_id": "ENSP00000414775.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 107,
"cds_start": 24,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432569.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "n.25G>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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000647909.1",
"protein_id": "ENSP00000498164.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 729,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000896966.1",
"protein_id": "ENSP00000567025.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 727,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000896962.1",
"protein_id": "ENSP00000567021.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 719,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000896969.1",
"protein_id": "ENSP00000567028.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 718,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000950217.1",
"protein_id": "ENSP00000620276.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 716,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000896965.1",
"protein_id": "ENSP00000567023.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 695,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000896963.1",
"protein_id": "ENSP00000567022.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 694,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000926646.1",
"protein_id": "ENSP00000596705.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 692,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000926648.1",
"protein_id": "ENSP00000596707.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 684,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000950218.1",
"protein_id": "ENSP00000620277.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 659,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000896968.1",
"protein_id": "ENSP00000567027.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 638,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000950216.1",
"protein_id": "ENSP00000620275.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 592,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000926649.1",
"protein_id": "ENSP00000596708.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 352,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000926647.1",
"protein_id": "ENSP00000596706.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 299,
"cds_start": 24,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047449148.1",
"protein_id": "XP_047305104.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 530,
"cds_start": 24,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "n.9G>A",
"hgvs_p": null,
"transcript": "ENST00000432982.5",
"protein_id": "ENSP00000408198.1",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432982.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "n.47G>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": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B5",
"gene_hgnc_id": 3261,
"hgvs_c": "n.7G>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,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468748.7"
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.401,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003907.3",
"gene_symbol": "EIF2B5",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Pro8Pro"
},
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000608135.2",
"gene_symbol": "EIF2B5-DT",
"hgnc_id": 55202,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.9C>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}