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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: 1-24440173-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=24440173&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 24440173,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_020448.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "NM_020448.5",
"protein_id": "NP_065181.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374399.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020448.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000374399.9",
"protein_id": "ENSP00000363520.4",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020448.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374399.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.-152A>G",
"hgvs_p": null,
"transcript": "ENST00000003912.9",
"protein_id": "ENSP00000003912.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000003912.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000358028.8",
"protein_id": "ENSP00000350722.4",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 226,
"cds_start": 95,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358028.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.-152A>G",
"hgvs_p": null,
"transcript": "ENST00000003912.9",
"protein_id": "ENSP00000003912.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000003912.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "NM_001322854.2",
"protein_id": "NP_001309783.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322854.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "NM_001322855.2",
"protein_id": "NP_001309784.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322855.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "NM_001322856.2",
"protein_id": "NP_001309785.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322856.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "NM_001322857.1",
"protein_id": "NP_001309786.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322857.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000869436.1",
"protein_id": "ENSP00000539495.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869436.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000869438.1",
"protein_id": "ENSP00000539497.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869438.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000869439.1",
"protein_id": "ENSP00000539498.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869439.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000869440.1",
"protein_id": "ENSP00000539499.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869440.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000869441.1",
"protein_id": "ENSP00000539500.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869441.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000869442.1",
"protein_id": "ENSP00000539501.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869442.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000869443.1",
"protein_id": "ENSP00000539502.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869443.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000869444.1",
"protein_id": "ENSP00000539503.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869444.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000869445.1",
"protein_id": "ENSP00000539504.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 406,
"cds_start": 95,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869445.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Glu31Gly",
"transcript": "NM_001322864.2",
"protein_id": "NP_001309793.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 405,
"cds_start": 92,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322864.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Glu23Gly",
"transcript": "NM_001322866.2",
"protein_id": "NP_001309795.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 397,
"cds_start": 68,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322866.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000969634.1",
"protein_id": "ENSP00000639693.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 386,
"cds_start": 95,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969634.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPAL3",
"gene_hgnc_id": 25233,
"hgvs_c": "c.95A>G",
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}
],
"message": null
}