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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: 11-27658332-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=27658332&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 27658332,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001143810.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "NM_001709.5",
"protein_id": "NP_001700.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": "ENST00000356660.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001709.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000356660.9",
"protein_id": "ENSP00000349084.4",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": "NM_001709.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356660.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160Gln",
"transcript": "ENST00000438929.5",
"protein_id": "ENSP00000414303.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 329,
"cds_start": 479,
"cds_end": null,
"cds_length": 990,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438929.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Arg93Gln",
"transcript": "ENST00000395986.6",
"protein_id": "ENSP00000379309.2",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 262,
"cds_start": 278,
"cds_end": null,
"cds_length": 789,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395986.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000314915.6",
"protein_id": "ENSP00000320002.6",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 255,
"cds_start": 257,
"cds_end": null,
"cds_length": 768,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314915.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000395978.7",
"protein_id": "ENSP00000379302.3",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395978.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000395981.7",
"protein_id": "ENSP00000379305.3",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395981.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000395983.7",
"protein_id": "ENSP00000379307.3",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395983.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000418212.5",
"protein_id": "ENSP00000400502.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418212.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000439476.6",
"protein_id": "ENSP00000389345.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439476.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000525950.5",
"protein_id": "ENSP00000432035.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525950.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000530861.5",
"protein_id": "ENSP00000435564.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530861.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000532997.5",
"protein_id": "ENSP00000435805.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532997.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000533131.5",
"protein_id": "ENSP00000432727.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533131.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000533246.5",
"protein_id": "ENSP00000432376.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 247,
"cds_start": 233,
"cds_end": null,
"cds_length": 744,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533246.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.466C>T",
"hgvs_p": null,
"transcript": "ENST00000499008.8",
"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": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000499008.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.397C>T",
"hgvs_p": null,
"transcript": "ENST00000499568.3",
"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": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000499568.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.397C>T",
"hgvs_p": null,
"transcript": "ENST00000500662.7",
"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": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000500662.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.469C>T",
"hgvs_p": null,
"transcript": "ENST00000501176.7",
"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": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000501176.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.402C>T",
"hgvs_p": null,
"transcript": "ENST00000502161.7",
"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": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000502161.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "n.*362G>A",
"hgvs_p": null,
"transcript": "ENST00000530786.5",
"protein_id": "ENSP00000433003.1",
"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": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530786.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "n.591G>A",
"hgvs_p": null,
"transcript": "ENST00000584049.5",
"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": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000584049.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"computational_score_selected": 0.06781378388404846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0609,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.721,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001143810.2",
"gene_symbol": "BDNF",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160Gln"
},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000532965.5",
"gene_symbol": "BDNF-AS",
"hgnc_id": 20608,
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.571C>T",
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}
],
"clinvar_disease": "BDNF-related disorder,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases|BDNF-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}