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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: 19-49662445-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49662445&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49662445,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000377139.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "NM_001571.6",
"protein_id": "NP_001562.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 427,
"cds_start": 581,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": "ENST00000377139.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000377139.8",
"protein_id": "ENSP00000366344.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 427,
"cds_start": 581,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": "NM_001571.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000601291.5",
"protein_id": "ENSP00000471896.1",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 452,
"cds_start": 581,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000309877.11",
"protein_id": "ENSP00000310127.6",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 427,
"cds_start": 581,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000599223.5",
"protein_id": "ENSP00000471358.1",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 300,
"cds_start": 581,
"cds_end": null,
"cds_length": 903,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "ENST00000377135.8",
"protein_id": "ENSP00000366339.5",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 281,
"cds_start": 143,
"cds_end": null,
"cds_length": 846,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "ENST00000593922.5",
"protein_id": "ENSP00000472601.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 281,
"cds_start": 143,
"cds_end": null,
"cds_length": 846,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "ENST00000599144.5",
"protein_id": "ENSP00000470069.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 281,
"cds_start": 143,
"cds_end": null,
"cds_length": 846,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "ENST00000596765.5",
"protein_id": "ENSP00000470512.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 154,
"cds_start": 143,
"cds_end": null,
"cds_length": 465,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "ENST00000600022.5",
"protein_id": "ENSP00000472700.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 154,
"cds_start": 143,
"cds_end": null,
"cds_length": 465,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "NM_001197122.2",
"protein_id": "NP_001184051.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 452,
"cds_start": 581,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000597198.5",
"protein_id": "ENSP00000469113.1",
"transcript_support_level": 2,
"aa_start": 194,
"aa_end": null,
"aa_length": 427,
"cds_start": 581,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000600911.5",
"protein_id": "ENSP00000470431.1",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 408,
"cds_start": 581,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"transcript": "NM_001197123.2",
"protein_id": "NP_001184052.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 392,
"cds_start": 476,
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"cdna_start": 874,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "NM_001197124.2",
"protein_id": "NP_001184053.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 300,
"cds_start": 581,
"cds_end": null,
"cds_length": 903,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000598108.5",
"protein_id": "ENSP00000472223.1",
"transcript_support_level": 3,
"aa_start": 194,
"aa_end": null,
"aa_length": 286,
"cds_start": 581,
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"cdna_start": 838,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "NM_001197125.2",
"protein_id": "NP_001184054.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 281,
"cds_start": 143,
"cds_end": null,
"cds_length": 846,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "NM_001197126.2",
"protein_id": "NP_001184055.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 281,
"cds_start": 143,
"cds_end": null,
"cds_length": 846,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "ENST00000598808.5",
"protein_id": "ENSP00000472582.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
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"cds_start": 143,
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"cdna_start": 749,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000596756.5",
"protein_id": "ENSP00000473128.1",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 263,
"cds_start": 581,
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"cdna_start": 719,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "NM_001197127.2",
"protein_id": "NP_001184056.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 154,
"cds_start": 143,
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"cdna_start": 643,
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"cdna_length": 1041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "NM_001197128.2",
"protein_id": "NP_001184057.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 154,
"cds_start": 143,
"cds_end": null,
"cds_length": 465,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
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{
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{
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"splice_prediction_selected": "Benign",
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{
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"BS2"
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}