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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: 1-6085347-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6085347&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6085347,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000378083.8",
"consequences": [
{
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.425+99G>T",
"hgvs_p": null,
"transcript": "NM_001199862.2",
"protein_id": "NP_001186791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": "ENST00000378083.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.425+99G>T",
"hgvs_p": null,
"transcript": "ENST00000378083.8",
"protein_id": "ENSP00000367323.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": "NM_001199862.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "ENST00000341524.6",
"protein_id": "ENSP00000340824.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "ENST00000378097.6",
"protein_id": "ENSP00000367337.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.284+99G>T",
"hgvs_p": null,
"transcript": "ENST00000352527.6",
"protein_id": "ENSP00000318772.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903831",
"gene_hgnc_id": null,
"hgvs_c": "n.93G>T",
"hgvs_p": null,
"transcript": "XR_007065442.1",
"protein_id": null,
"transcript_support_level": null,
"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": 790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.*95G>T",
"hgvs_p": null,
"transcript": "ENST00000666299.1",
"protein_id": "ENSP00000499596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": -4,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.419+99G>T",
"hgvs_p": null,
"transcript": "ENST00000662363.1",
"protein_id": "ENSP00000499349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": -4,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "ENST00000602612.5",
"protein_id": "ENSP00000473602.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "ENST00000668559.1",
"protein_id": "ENSP00000499361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "NM_001199860.2",
"protein_id": "NP_001186789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3869,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "NM_001199861.2",
"protein_id": "NP_001186790.1",
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"aa_start": null,
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"aa_length": 367,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "NM_003636.4",
"protein_id": "NP_003627.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 367,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "ENST00000164247.5",
"protein_id": "ENSP00000164247.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "ENST00000378092.6",
"protein_id": "ENSP00000367332.2",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 7,
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"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "ENST00000428161.7",
"protein_id": "ENSP00000400285.2",
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},
{
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],
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"gene_symbol": "KCNAB2",
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"hgvs_c": "c.326+99G>T",
"hgvs_p": null,
"transcript": "ENST00000671676.1",
"protein_id": "ENSP00000499496.1",
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.284+99G>T",
"hgvs_p": null,
"transcript": "NM_172130.3",
"protein_id": "NP_742128.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.284+99G>T",
"hgvs_p": null,
"transcript": "ENST00000666163.1",
"protein_id": "ENSP00000499370.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "KCNAB2",
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"hgvs_c": "c.284+99G>T",
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"transcript": "ENST00000669250.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "KCNAB2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.125+99G>T",
"hgvs_p": null,
"transcript": "NM_001199863.2",
"protein_id": "NP_001186792.1",
"transcript_support_level": null,
"aa_start": null,
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"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
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.125+99G>T",
"hgvs_p": null,
"transcript": "ENST00000458166.6",
"protein_id": "ENSP00000396167.2",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
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{
"aa_ref": null,
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}
],
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"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.042,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
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"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000378083.8",
"gene_symbol": "KCNAB2",
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"effects": [
"intron_variant"
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"inheritance_mode": "AD",
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{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007065442.1",
"gene_symbol": "LOC124903831",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.93G>T",
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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
}