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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: 11-27657922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=27657922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 27657922,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000356660.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "NM_001709.5",
"protein_id": "NP_001700.2",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": "ENST00000356660.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000356660.9",
"protein_id": "ENSP00000349084.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": "NM_001709.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.889G>A",
"hgvs_p": "p.Val297Met",
"transcript": "ENST00000438929.5",
"protein_id": "ENSP00000414303.1",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 329,
"cds_start": 889,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.688G>A",
"hgvs_p": "p.Val230Met",
"transcript": "ENST00000395986.6",
"protein_id": "ENSP00000379309.2",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 262,
"cds_start": 688,
"cds_end": null,
"cds_length": 789,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.667G>A",
"hgvs_p": "p.Val223Met",
"transcript": "ENST00000314915.6",
"protein_id": "ENSP00000320002.6",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 255,
"cds_start": 667,
"cds_end": null,
"cds_length": 768,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000395978.7",
"protein_id": "ENSP00000379302.3",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000395981.7",
"protein_id": "ENSP00000379305.3",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000395983.7",
"protein_id": "ENSP00000379307.3",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000418212.5",
"protein_id": "ENSP00000400502.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000439476.6",
"protein_id": "ENSP00000389345.2",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000525950.5",
"protein_id": "ENSP00000432035.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000530861.5",
"protein_id": "ENSP00000435564.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000532997.5",
"protein_id": "ENSP00000435805.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000533131.5",
"protein_id": "ENSP00000432727.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
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"cdna_start": 849,
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"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000533246.5",
"protein_id": "ENSP00000432376.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 247,
"cds_start": 643,
"cds_end": null,
"cds_length": 744,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*772G>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": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.1001G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_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.*772G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.375-319C>T",
"hgvs_p": null,
"transcript": "ENST00000499008.8",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.306-319C>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": -4,
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"cdna_start": null,
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"cdna_length": 2036,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.306-319C>T",
"hgvs_p": null,
"transcript": "ENST00000500662.7",
"protein_id": null,
"transcript_support_level": 1,
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.375-316C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.311-319C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}