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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: 3-112345231-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112345231&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 112345231,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001004196.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.364C>G",
"hgvs_p": "p.Leu122Val",
"transcript": "NM_005944.7",
"protein_id": "NP_005935.4",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 269,
"cds_start": 364,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315711.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005944.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.364C>G",
"hgvs_p": "p.Leu122Val",
"transcript": "ENST00000315711.12",
"protein_id": "ENSP00000312766.8",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 269,
"cds_start": 364,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005944.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315711.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "n.364C>G",
"hgvs_p": null,
"transcript": "ENST00000498096.6",
"protein_id": "ENSP00000418576.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000498096.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.439C>G",
"hgvs_p": "p.Leu147Val",
"transcript": "NM_001004196.4",
"protein_id": "NP_001004196.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 294,
"cds_start": 439,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004196.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.439C>G",
"hgvs_p": "p.Leu147Val",
"transcript": "ENST00000473539.5",
"protein_id": "ENSP00000420298.1",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 294,
"cds_start": 439,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473539.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.364C>G",
"hgvs_p": "p.Leu122Val",
"transcript": "NM_001365851.2",
"protein_id": "NP_001352780.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 278,
"cds_start": 364,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365851.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Leu115Val",
"transcript": "NM_001365852.1",
"protein_id": "NP_001352781.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 262,
"cds_start": 343,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365852.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Leu115Val",
"transcript": "NM_001365853.1",
"protein_id": "NP_001352782.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 262,
"cds_start": 343,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365853.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Leu115Val",
"transcript": "NM_001365854.1",
"protein_id": "NP_001352783.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 262,
"cds_start": 343,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365854.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Leu115Val",
"transcript": "ENST00000607597.2",
"protein_id": "ENSP00000476114.2",
"transcript_support_level": 4,
"aa_start": 115,
"aa_end": null,
"aa_length": 262,
"cds_start": 343,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607597.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Leu115Val",
"transcript": "ENST00000714188.1",
"protein_id": "ENSP00000519478.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 262,
"cds_start": 343,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714188.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Leu115Val",
"transcript": "ENST00000714205.1",
"protein_id": "ENSP00000519488.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 262,
"cds_start": 343,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714205.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Leu115Val",
"transcript": "ENST00000714208.1",
"protein_id": "ENSP00000519491.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 262,
"cds_start": 343,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714208.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.277C>G",
"hgvs_p": "p.Leu93Val",
"transcript": "ENST00000606471.6",
"protein_id": "ENSP00000475860.2",
"transcript_support_level": 3,
"aa_start": 93,
"aa_end": null,
"aa_length": 240,
"cds_start": 277,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606471.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Leu48Val",
"transcript": "NM_001318828.2",
"protein_id": "NP_001305757.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 195,
"cds_start": 142,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318828.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Leu48Val",
"transcript": "ENST00000383681.7",
"protein_id": "ENSP00000373179.3",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 195,
"cds_start": 142,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383681.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.364C>G",
"hgvs_p": "p.Leu122Val",
"transcript": "ENST00000937589.1",
"protein_id": "ENSP00000607648.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 178,
"cds_start": 364,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937589.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Val7Val",
"transcript": "NM_001318826.2",
"protein_id": "NP_001305755.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 153,
"cds_start": 21,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318826.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Val7Val",
"transcript": "NM_001318830.2",
"protein_id": "NP_001305759.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 153,
"cds_start": 21,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318830.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.21C>G",
"hgvs_p": "p.Val7Val",
"transcript": "NM_001365855.1",
"protein_id": "NP_001352784.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 153,
"cds_start": 21,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.-83-2327C>G",
"hgvs_p": null,
"transcript": "ENST00000714209.1",
"protein_id": "ENSP00000519492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "n.142C>G",
"hgvs_p": null,
"transcript": "ENST00000478595.1",
"protein_id": "ENSP00000419816.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000478595.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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}
],
"message": null
}