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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: 6-31639334-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31639334&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31639334,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001388012.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3394-108T>A",
"hgvs_p": null,
"transcript": "NM_001387994.1",
"protein_id": "NP_001374923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": null,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000676615.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387994.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3394-108T>A",
"hgvs_p": null,
"transcript": "ENST00000676615.2",
"protein_id": "ENSP00000502941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": null,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387994.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676615.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3286-108T>A",
"hgvs_p": null,
"transcript": "ENST00000211379.9",
"protein_id": "ENSP00000211379.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1126,
"cds_start": null,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000211379.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3286-108T>A",
"hgvs_p": null,
"transcript": "ENST00000375976.8",
"protein_id": "ENSP00000365143.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1126,
"cds_start": null,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375976.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3208-108T>A",
"hgvs_p": null,
"transcript": "ENST00000375964.11",
"protein_id": "ENSP00000365131.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1100,
"cds_start": null,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375964.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3502-108T>A",
"hgvs_p": null,
"transcript": "ENST00000888860.1",
"protein_id": "ENSP00000558919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1198,
"cds_start": null,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888860.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3439-108T>A",
"hgvs_p": null,
"transcript": "ENST00000921988.1",
"protein_id": "ENSP00000592047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1177,
"cds_start": null,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921988.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3427-108T>A",
"hgvs_p": null,
"transcript": "ENST00000676571.1",
"protein_id": "ENSP00000504005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": null,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3427-108T>A",
"hgvs_p": null,
"transcript": "ENST00000888849.1",
"protein_id": "ENSP00000558908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": null,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3427-108T>A",
"hgvs_p": null,
"transcript": "ENST00000921978.1",
"protein_id": "ENSP00000592037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": null,
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"cds_length": 3522,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921978.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3424-108T>A",
"hgvs_p": null,
"transcript": "ENST00000921981.1",
"protein_id": "ENSP00000592040.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000921981.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 25,
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"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3421-108T>A",
"hgvs_p": null,
"transcript": "NM_001388012.1",
"protein_id": "NP_001374941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1171,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388012.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3421-108T>A",
"hgvs_p": null,
"transcript": "ENST00000888817.1",
"protein_id": "ENSP00000558876.1",
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000888817.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
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"hgvs_c": "c.3421-108T>A",
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"biotype": "protein_coding",
"feature": "ENST00000888847.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3400-108T>A",
"hgvs_p": null,
"transcript": "ENST00000888855.1",
"protein_id": "ENSP00000558914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888855.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 25,
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"gene_symbol": "BAG6",
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"hgvs_c": "c.3394-108T>A",
"hgvs_p": null,
"transcript": "NM_001387989.1",
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"biotype": "protein_coding",
"feature": "NM_001387989.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3394-108T>A",
"hgvs_p": null,
"transcript": "NM_001387996.1",
"protein_id": "NP_001374925.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001387996.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3394-108T>A",
"hgvs_p": null,
"transcript": "NM_001388011.1",
"protein_id": "NP_001374940.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "NM_001388011.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 25,
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"gene_symbol": "BAG6",
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"hgvs_c": "c.3394-108T>A",
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"transcript": "NM_001388020.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 25,
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"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3394-108T>A",
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"protein_id": "ENSP00000558885.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "BAG6",
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"hgvs_c": "c.3394-108T>A",
"hgvs_p": null,
"transcript": "ENST00000888845.1",
"protein_id": "ENSP00000558904.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888845.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3391-108T>A",
"hgvs_p": null,
"transcript": "NM_001387988.1",
"protein_id": "NP_001374917.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387988.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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{
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"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.83,
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "NM_001388012.1",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}