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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: 13-23340969-ACTGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23340969&ref=ACTGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23340969,
"ref": "ACTGT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001437336.1",
"consequences": [
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2903_2906delACAG",
"hgvs_p": "p.Asp968fs",
"transcript": "NM_014363.6",
"protein_id": "NP_055178.3",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 4579,
"cds_start": 2903,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 3495,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "ENST00000382292.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014363.6"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2903_2906delACAG",
"hgvs_p": "p.Asp968fs",
"transcript": "ENST00000382292.9",
"protein_id": "ENSP00000371729.3",
"transcript_support_level": 5,
"aa_start": 968,
"aa_end": null,
"aa_length": 4579,
"cds_start": 2903,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 3495,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "NM_014363.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382292.9"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2431+472_2431+475delACAG",
"hgvs_p": null,
"transcript": "ENST00000455470.6",
"protein_id": "ENSP00000406565.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": null,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455470.6"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2930_2933delACAG",
"hgvs_p": "p.Asp977fs",
"transcript": "NM_001437336.1",
"protein_id": "NP_001424265.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 4588,
"cds_start": 2930,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 15662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437336.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2930_2933delACAG",
"hgvs_p": "p.Asp977fs",
"transcript": "ENST00000682944.1",
"protein_id": "ENSP00000507173.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 4588,
"cds_start": 2930,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 3572,
"cdna_end": null,
"cdna_length": 15712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682944.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2462_2465delACAG",
"hgvs_p": "p.Asp821fs",
"transcript": "NM_001278055.2",
"protein_id": "NP_001264984.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 4432,
"cds_start": 2462,
"cds_end": null,
"cds_length": 13299,
"cdna_start": 2955,
"cdna_end": null,
"cdna_length": 15095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278055.2"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.653_656delACAG",
"hgvs_p": "p.Asp218fs",
"transcript": "ENST00000402364.1",
"protein_id": "ENSP00000385844.1",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 3829,
"cds_start": 653,
"cds_end": null,
"cds_length": 11490,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402364.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2894_2897delACAG",
"hgvs_p": "p.Asp965fs",
"transcript": "ENST00000683270.1",
"protein_id": "ENSP00000507624.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 2170,
"cds_start": 2894,
"cds_end": null,
"cds_length": 6513,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 7009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683270.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2954_2957delACAG",
"hgvs_p": "p.Asp985fs",
"transcript": "XM_047430254.1",
"protein_id": "XP_047286210.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 4596,
"cds_start": 2954,
"cds_end": null,
"cds_length": 13791,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430254.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2930_2933delACAG",
"hgvs_p": "p.Asp977fs",
"transcript": "XM_024449337.2",
"protein_id": "XP_024305105.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 4588,
"cds_start": 2930,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 3743,
"cdna_end": null,
"cdna_length": 15883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449337.2"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2927_2930delACAG",
"hgvs_p": "p.Asp976fs",
"transcript": "XM_047430255.1",
"protein_id": "XP_047286211.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 4587,
"cds_start": 2927,
"cds_end": null,
"cds_length": 13764,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 15107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430255.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2921_2924delACAG",
"hgvs_p": "p.Asp974fs",
"transcript": "XM_011535039.3",
"protein_id": "XP_011533341.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 4585,
"cds_start": 2921,
"cds_end": null,
"cds_length": 13758,
"cdna_start": 3070,
"cdna_end": null,
"cdna_length": 15210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535039.3"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2903_2906delACAG",
"hgvs_p": "p.Asp968fs",
"transcript": "XM_047430256.1",
"protein_id": "XP_047286212.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 4579,
"cds_start": 2903,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 3716,
"cdna_end": null,
"cdna_length": 15856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430256.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2894_2897delACAG",
"hgvs_p": "p.Asp965fs",
"transcript": "XM_017020539.2",
"protein_id": "XP_016876028.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 4576,
"cds_start": 2894,
"cds_end": null,
"cds_length": 13731,
"cdna_start": 3043,
"cdna_end": null,
"cdna_length": 15183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020539.2"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2783_2786delACAG",
"hgvs_p": "p.Asp928fs",
"transcript": "XM_047430257.1",
"protein_id": "XP_047286213.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 4539,
"cds_start": 2783,
"cds_end": null,
"cds_length": 13620,
"cdna_start": 3375,
"cdna_end": null,
"cdna_length": 15515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430257.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2783_2786delACAG",
"hgvs_p": "p.Asp928fs",
"transcript": "XM_047430258.1",
"protein_id": "XP_047286214.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 4539,
"cds_start": 2783,
"cds_end": null,
"cds_length": 13620,
"cdna_start": 3596,
"cdna_end": null,
"cdna_length": 15736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430258.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2780_2783delACAG",
"hgvs_p": "p.Asp927fs",
"transcript": "XM_047430259.1",
"protein_id": "XP_047286215.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 4538,
"cds_start": 2780,
"cds_end": null,
"cds_length": 13617,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 14960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430259.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2774_2777delACAG",
"hgvs_p": "p.Asp925fs",
"transcript": "XM_047430260.1",
"protein_id": "XP_047286216.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 4536,
"cds_start": 2774,
"cds_end": null,
"cds_length": 13611,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 15063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430260.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2756_2759delACAG",
"hgvs_p": "p.Asp919fs",
"transcript": "XM_047430261.1",
"protein_id": "XP_047286217.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 4530,
"cds_start": 2756,
"cds_end": null,
"cds_length": 13593,
"cdna_start": 3348,
"cdna_end": null,
"cdna_length": 15488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430261.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2756_2759delACAG",
"hgvs_p": "p.Asp919fs",
"transcript": "XM_047430262.1",
"protein_id": "XP_047286218.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 4530,
"cds_start": 2756,
"cds_end": null,
"cds_length": 13593,
"cdna_start": 3569,
"cdna_end": null,
"cdna_length": 15709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430262.1"
},
{
"aa_ref": "DS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2747_2750delACAG",
"hgvs_p": "p.Asp916fs",
"transcript": "XM_047430263.1",
"protein_id": "XP_047286219.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 4527,
"cds_start": 2747,
"cds_end": null,
"cds_length": 13584,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 15036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430263.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2220+5838_2220+5841delACAG",
"hgvs_p": null,
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}
],
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}