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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: 6-130441152-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130441152&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 130441152,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_052913.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "NM_001258277.2",
"protein_id": "NP_001245206.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296978.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258277.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000296978.4",
"protein_id": "ENSP00000296978.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001258277.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296978.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000392429.1",
"protein_id": "ENSP00000376224.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392429.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "NM_001258276.2",
"protein_id": "NP_001245205.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258276.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "NM_001258278.2",
"protein_id": "NP_001245207.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258278.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "NM_052913.3",
"protein_id": "NP_443145.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052913.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000545622.5",
"protein_id": "ENSP00000438928.1",
"transcript_support_level": 2,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545622.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000617887.4",
"protein_id": "ENSP00000480294.1",
"transcript_support_level": 2,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617887.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000898610.1",
"protein_id": "ENSP00000568669.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898610.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000898611.1",
"protein_id": "ENSP00000568670.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898611.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000898612.1",
"protein_id": "ENSP00000568671.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898612.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000898613.1",
"protein_id": "ENSP00000568672.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898613.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000898614.1",
"protein_id": "ENSP00000568673.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898614.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000898615.1",
"protein_id": "ENSP00000568674.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898615.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000932435.1",
"protein_id": "ENSP00000602494.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932435.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000932436.1",
"protein_id": "ENSP00000602495.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932436.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000932437.1",
"protein_id": "ENSP00000602496.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932437.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000932438.1",
"protein_id": "ENSP00000602497.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932438.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000932439.1",
"protein_id": "ENSP00000602498.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932439.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000952523.1",
"protein_id": "ENSP00000622582.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952523.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "ENST00000952524.1",
"protein_id": "ENSP00000622583.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952524.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM200A",
"gene_hgnc_id": 21075,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Pro244Ala",
"transcript": "XM_005266816.4",
"protein_id": "XP_005266873.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 491,
"cds_start": 730,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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}
],
"message": null
}