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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: 17-5539467-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5539467&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5539467,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000572272.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "NM_033004.4",
"protein_id": "NP_127497.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1473,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 3370,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "ENST00000572272.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000572272.6",
"protein_id": "ENSP00000460475.1",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1473,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 3370,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "NM_033004.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000354411.8",
"protein_id": "ENSP00000346390.3",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1443,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000269280.9",
"protein_id": "ENSP00000269280.4",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3037,
"cdna_end": null,
"cdna_length": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000571451.7",
"protein_id": "ENSP00000459661.3",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3340,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000577119.5",
"protein_id": "ENSP00000460216.1",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000571307.2",
"protein_id": "ENSP00000514459.1",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000699633.1",
"protein_id": "ENSP00000514491.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1477,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4434,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000617618.5",
"protein_id": "ENSP00000478516.1",
"transcript_support_level": 5,
"aa_start": 940,
"aa_end": null,
"aa_length": 1473,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "NM_033006.4",
"protein_id": "NP_127499.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1443,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 3370,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "NM_014922.5",
"protein_id": "NP_055737.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3370,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000576905.6",
"protein_id": "ENSP00000458303.2",
"transcript_support_level": 4,
"aa_start": 940,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000699634.1",
"protein_id": "ENSP00000514492.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1408,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "NM_033007.4",
"protein_id": "NP_127500.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2818,
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"cdna_start": 3370,
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"cdna_length": 5388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000699613.1",
"protein_id": "ENSP00000514477.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1386,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4161,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "NM_001033053.3",
"protein_id": "NP_001028225.1",
"transcript_support_level": null,
"aa_start": 940,
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"cds_start": 2818,
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"cdna_start": 3370,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000262467.11",
"protein_id": "ENSP00000262467.5",
"transcript_support_level": 5,
"aa_start": 940,
"aa_end": null,
"aa_length": 1375,
"cds_start": 2818,
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"cds_length": 4128,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000699710.1",
"protein_id": "ENSP00000514535.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2818,
"cds_end": null,
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"cdna_start": 2820,
"cdna_end": 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": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000699707.1",
"protein_id": "ENSP00000514532.1",
"transcript_support_level": null,
"aa_start": 940,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000699614.1",
"protein_id": "ENSP00000514478.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
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"cds_start": 2818,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000699712.1",
"protein_id": "ENSP00000514537.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2818,
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"cds_length": 3489,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940*",
"transcript": "ENST00000699809.1",
"protein_id": "ENSP00000514612.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3184,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
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}