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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: 2-54973570-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=54973570&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 54973570,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020532.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.3529A>T",
"hgvs_p": "p.Met1177Leu",
"transcript": "NM_020532.5",
"protein_id": "NP_065393.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 3680,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": "ENST00000337526.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020532.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.3529A>T",
"hgvs_p": "p.Met1177Leu",
"transcript": "ENST00000337526.11",
"protein_id": "ENSP00000337838.6",
"transcript_support_level": 1,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 3680,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": "NM_020532.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337526.11"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "ENST00000357376.7",
"protein_id": "ENSP00000349944.3",
"transcript_support_level": 1,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3093,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357376.7"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "ENST00000394611.6",
"protein_id": "ENSP00000378109.2",
"transcript_support_level": 1,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3144,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394611.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "ENST00000404909.5",
"protein_id": "ENSP00000385650.1",
"transcript_support_level": 1,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404909.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "ENST00000405240.5",
"protein_id": "ENSP00000384471.1",
"transcript_support_level": 1,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3044,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405240.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1129A>T",
"hgvs_p": "p.Met377Leu",
"transcript": "ENST00000357732.8",
"protein_id": "ENSP00000350365.4",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 392,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357732.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1072A>T",
"hgvs_p": "p.Met358Leu",
"transcript": "ENST00000317610.11",
"protein_id": "ENSP00000322147.7",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 373,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317610.11"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.550A>T",
"hgvs_p": "p.Met184Leu",
"transcript": "ENST00000394609.6",
"protein_id": "ENSP00000378107.2",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 199,
"cds_start": 550,
"cds_end": null,
"cds_length": 600,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394609.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "NM_001321859.2",
"protein_id": "NP_001308788.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3529,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321859.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "NM_001321860.1",
"protein_id": "NP_001308789.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3144,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321860.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "NM_001321861.2",
"protein_id": "NP_001308790.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321861.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "NM_001321862.2",
"protein_id": "NP_001308791.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 4111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321862.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "NM_001321863.2",
"protein_id": "NP_001308792.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3484,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321863.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "NM_001321904.2",
"protein_id": "NP_001308833.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
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"cds_length": 2961,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321904.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2911A>T",
"hgvs_p": "p.Met971Leu",
"transcript": "NM_207521.2",
"protein_id": "NP_997404.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 986,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207521.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2692A>T",
"hgvs_p": "p.Met898Leu",
"transcript": "ENST00000938587.1",
"protein_id": "ENSP00000608646.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 913,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938587.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1273A>T",
"hgvs_p": "p.Met425Leu",
"transcript": "ENST00000951906.1",
"protein_id": "ENSP00000621965.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 440,
"cds_start": 1273,
"cds_end": null,
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"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951906.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1156A>T",
"hgvs_p": "p.Met386Leu",
"transcript": "ENST00000852508.1",
"protein_id": "ENSP00000522567.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 401,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852508.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1129A>T",
"hgvs_p": "p.Met377Leu",
"transcript": "NM_207520.2",
"protein_id": "NP_997403.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 392,
"cds_start": 1129,
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"cdna_start": 1280,
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"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207520.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1072A>T",
"hgvs_p": "p.Met358Leu",
"transcript": "NM_153828.3",
"protein_id": "NP_722550.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 373,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153828.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1066A>T",
"hgvs_p": "p.Met356Leu",
"transcript": "ENST00000852509.1",
"protein_id": "ENSP00000522568.1",
"transcript_support_level": null,
"aa_start": 356,
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}
],
"message": null
}