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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: 2-151860809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151860809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151860809,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000539935.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Thr257Met",
"transcript": "NM_000726.5",
"protein_id": "NP_000717.2",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 520,
"cds_start": 770,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": "ENST00000539935.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Thr257Met",
"transcript": "ENST00000539935.7",
"protein_id": "ENSP00000438949.1",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 520,
"cds_start": 770,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": "NM_000726.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Thr223Met",
"transcript": "ENST00000534999.7",
"protein_id": "ENSP00000443893.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 486,
"cds_start": 668,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 8074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Thr257Met",
"transcript": "ENST00000201943.10",
"protein_id": "ENSP00000201943.5",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 458,
"cds_start": 770,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283228",
"gene_hgnc_id": null,
"hgvs_c": "n.598-5434C>T",
"hgvs_p": null,
"transcript": "ENST00000637559.1",
"protein_id": "ENSP00000489697.1",
"transcript_support_level": 5,
"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": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.716C>T",
"hgvs_p": "p.Thr239Met",
"transcript": "NM_001005746.4",
"protein_id": "NP_001005746.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 502,
"cds_start": 716,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 7971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.716C>T",
"hgvs_p": "p.Thr239Met",
"transcript": "ENST00000638005.1",
"protein_id": "ENSP00000489677.1",
"transcript_support_level": 2,
"aa_start": 239,
"aa_end": null,
"aa_length": 502,
"cds_start": 716,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Thr227Met",
"transcript": "ENST00000637762.1",
"protein_id": "ENSP00000489876.1",
"transcript_support_level": 5,
"aa_start": 227,
"aa_end": null,
"aa_length": 490,
"cds_start": 680,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Thr223Met",
"transcript": "NM_001005747.4",
"protein_id": "NP_001005747.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 486,
"cds_start": 668,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 8074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Thr216Met",
"transcript": "ENST00000427385.6",
"protein_id": "ENSP00000410978.2",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 479,
"cds_start": 647,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"transcript": "NM_001320722.3",
"protein_id": "NP_001307651.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 473,
"cds_start": 629,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 8234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"transcript": "NM_001330118.1",
"protein_id": "NP_001317047.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 473,
"cds_start": 629,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 8091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"transcript": "ENST00000439467.6",
"protein_id": "ENSP00000390161.2",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 473,
"cds_start": 629,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 950,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"transcript": "ENST00000636598.1",
"protein_id": "ENSP00000490247.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"transcript": "ENST00000637217.1",
"protein_id": "ENSP00000490250.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 473,
"cds_start": 629,
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"cdna_start": 1142,
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"cdna_length": 8188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Thr209Met",
"transcript": "ENST00000360283.11",
"protein_id": "ENSP00000353425.8",
"transcript_support_level": 5,
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"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Met",
"transcript": "ENST00000636442.1",
"protein_id": "ENSP00000489779.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 461,
"cds_start": 593,
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"cdna_start": 754,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Thr257Met",
"transcript": "NM_001145798.2",
"protein_id": "NP_001139270.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 458,
"cds_start": 770,
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"cdna_start": 926,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000636350.1",
"protein_id": "ENSP00000489621.1",
"transcript_support_level": 5,
"aa_start": 182,
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},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000637418.1",
"protein_id": "ENSP00000489679.1",
"transcript_support_level": 5,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"transcript": "ENST00000397327.7",
"protein_id": "ENSP00000380490.3",
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"cds_start": 629,
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"cdna_start": 1048,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Thr223Met",
"transcript": "ENST00000638091.1",
"protein_id": "ENSP00000489967.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 424,
"cds_start": 668,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB4",
"gene_hgnc_id": 1404,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"transcript": "ENST00000636130.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.598-5434C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Idiopathic generalized epilepsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Idiopathic generalized epilepsy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}