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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: 10-95606800-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95606800&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95606800,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002860.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.His784Tyr",
"transcript": "NM_002860.4",
"protein_id": "NP_002851.2",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 795,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371224.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002860.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.His784Tyr",
"transcript": "ENST00000371224.7",
"protein_id": "ENSP00000360268.2",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 795,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002860.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371224.7"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.His782Tyr",
"transcript": "ENST00000371221.3",
"protein_id": "ENSP00000360265.3",
"transcript_support_level": 1,
"aa_start": 782,
"aa_end": null,
"aa_length": 793,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371221.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.His784Tyr",
"transcript": "NM_001323413.2",
"protein_id": "NP_001310342.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 795,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323413.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.His784Tyr",
"transcript": "NM_001323414.2",
"protein_id": "NP_001310343.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 795,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323414.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.His784Tyr",
"transcript": "ENST00000879381.1",
"protein_id": "ENSP00000549440.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 795,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879381.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.His784Tyr",
"transcript": "ENST00000879382.1",
"protein_id": "ENSP00000549441.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 795,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879382.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.His784Tyr",
"transcript": "ENST00000931927.1",
"protein_id": "ENSP00000601986.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 795,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931927.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.His784Tyr",
"transcript": "ENST00000931930.1",
"protein_id": "ENSP00000601989.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 795,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931930.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.His784Tyr",
"transcript": "ENST00000931933.1",
"protein_id": "ENSP00000601992.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 795,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931933.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.His782Tyr",
"transcript": "NM_001017423.2",
"protein_id": "NP_001017423.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 793,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017423.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.His782Tyr",
"transcript": "NM_001323415.2",
"protein_id": "NP_001310344.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 793,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323415.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.His782Tyr",
"transcript": "ENST00000879374.1",
"protein_id": "ENSP00000549433.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 793,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879374.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.His782Tyr",
"transcript": "ENST00000879379.1",
"protein_id": "ENSP00000549438.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 793,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879379.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.His782Tyr",
"transcript": "ENST00000879380.1",
"protein_id": "ENSP00000549439.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 793,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879380.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.His775Tyr",
"transcript": "ENST00000879377.1",
"protein_id": "ENSP00000549436.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 786,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879377.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.His772Tyr",
"transcript": "ENST00000931931.1",
"protein_id": "ENSP00000601990.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 783,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931931.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2263C>T",
"hgvs_p": "p.His755Tyr",
"transcript": "ENST00000879375.1",
"protein_id": "ENSP00000549434.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 766,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879375.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.His749Tyr",
"transcript": "NM_001323417.2",
"protein_id": "NP_001310346.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 760,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323417.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.His749Tyr",
"transcript": "ENST00000931934.1",
"protein_id": "ENSP00000601993.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 760,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931934.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2212C>T",
"hgvs_p": "p.His738Tyr",
"transcript": "ENST00000879378.1",
"protein_id": "ENSP00000549437.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 749,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879378.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.2191C>T",
"hgvs_p": "p.His731Tyr",
"transcript": "ENST00000879376.1",
"protein_id": "ENSP00000549435.1",
"transcript_support_level": null,
"aa_start": 731,
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{
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"phenotype_combined": "ALDH18A1-related de Barsy syndrome",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}