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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: 5-132489457-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132489457&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132489457,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002198.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "NM_002198.3",
"protein_id": "NP_002189.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 325,
"cds_start": 22,
"cds_end": null,
"cds_length": 978,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": "ENST00000245414.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002198.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000245414.9",
"protein_id": "ENSP00000245414.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 325,
"cds_start": 22,
"cds_end": null,
"cds_length": 978,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": "NM_002198.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245414.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-169+39768T>C",
"hgvs_p": null,
"transcript": "ENST00000638452.2",
"protein_id": "ENSP00000492349.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": null,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638452.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.237A>G",
"hgvs_p": null,
"transcript": "ENST00000493208.1",
"protein_id": null,
"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": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.22A>G",
"hgvs_p": null,
"transcript": "ENST00000613424.5",
"protein_id": "ENSP00000480887.1",
"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": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000613424.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000886279.1",
"protein_id": "ENSP00000556338.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 334,
"cds_start": 22,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886279.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000405885.6",
"protein_id": "ENSP00000384406.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 325,
"cds_start": 22,
"cds_end": null,
"cds_length": 978,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405885.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000965376.1",
"protein_id": "ENSP00000635435.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 325,
"cds_start": 22,
"cds_end": null,
"cds_length": 978,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965376.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000886281.1",
"protein_id": "ENSP00000556340.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 320,
"cds_start": 22,
"cds_end": null,
"cds_length": 963,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886281.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "NM_001354924.1",
"protein_id": "NP_001341853.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 284,
"cds_start": 22,
"cds_end": null,
"cds_length": 855,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354924.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000680903.1",
"protein_id": "ENSP00000505720.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 284,
"cds_start": 22,
"cds_end": null,
"cds_length": 855,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680903.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "NM_001354925.1",
"protein_id": "NP_001341854.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 263,
"cds_start": 22,
"cds_end": null,
"cds_length": 792,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354925.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000680139.1",
"protein_id": "ENSP00000506148.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 263,
"cds_start": 22,
"cds_end": null,
"cds_length": 792,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680139.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000886280.1",
"protein_id": "ENSP00000556339.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 222,
"cds_start": 22,
"cds_end": null,
"cds_length": 669,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886280.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000458069.5",
"protein_id": "ENSP00000396318.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 191,
"cds_start": 22,
"cds_end": null,
"cds_length": 577,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458069.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000437654.6",
"protein_id": "ENSP00000405655.2",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 188,
"cds_start": 22,
"cds_end": null,
"cds_length": 568,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437654.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000476613.1",
"protein_id": "ENSP00000473661.1",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 117,
"cds_start": 22,
"cds_end": null,
"cds_length": 356,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476613.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000679499.1",
"protein_id": "ENSP00000505066.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 60,
"cds_start": 22,
"cds_end": null,
"cds_length": 184,
"cdna_start": 27,
"cdna_end": null,
"cdna_length": 189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679499.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000679440.1",
"protein_id": "ENSP00000506401.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 28,
"cds_start": 22,
"cds_end": null,
"cds_length": 87,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679440.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000680796.1",
"protein_id": "ENSP00000506572.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 28,
"cds_start": 22,
"cds_end": null,
"cds_length": 87,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680796.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.22A>G",
"hgvs_p": "p.Met8Val",
"transcript": "ENST00000681584.1",
"protein_id": "ENSP00000505448.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 28,
"cds_start": 22,
"cds_end": null,
"cds_length": 87,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681584.1"
},
{
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-311+39768T>C",
"hgvs_p": null,
"transcript": "ENST00000638568.2",
"protein_id": "ENSP00000491158.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": null,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638568.2"
},
{
"aa_ref": null,
"aa_alt": null,
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}
],
"message": null
}