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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: 19-49660724-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49660724&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49660724,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001197122.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Val363Met",
"transcript": "NM_001571.6",
"protein_id": "NP_001562.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 427,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377139.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001571.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Val363Met",
"transcript": "ENST00000377139.8",
"protein_id": "ENSP00000366344.3",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 427,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001571.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377139.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "ENST00000601291.5",
"protein_id": "ENSP00000471896.1",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 452,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601291.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Val363Met",
"transcript": "ENST00000309877.11",
"protein_id": "ENSP00000310127.6",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 427,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309877.11"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "ENST00000599223.5",
"protein_id": "ENSP00000471358.1",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 300,
"cds_start": 706,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599223.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Met",
"transcript": "ENST00000593922.5",
"protein_id": "ENSP00000472601.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 281,
"cds_start": 649,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593922.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.649G>A",
"hgvs_p": "p.Val217Met",
"transcript": "ENST00000599144.5",
"protein_id": "ENSP00000470069.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 281,
"cds_start": 649,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599144.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.268G>A",
"hgvs_p": "p.Val90Met",
"transcript": "ENST00000596765.5",
"protein_id": "ENSP00000470512.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 154,
"cds_start": 268,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596765.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.268G>A",
"hgvs_p": "p.Val90Met",
"transcript": "ENST00000600022.5",
"protein_id": "ENSP00000472700.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 154,
"cds_start": 268,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600022.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "NM_001197122.2",
"protein_id": "NP_001184051.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 452,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197122.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Val363Met",
"transcript": "ENST00000597198.5",
"protein_id": "ENSP00000469113.1",
"transcript_support_level": 2,
"aa_start": 363,
"aa_end": null,
"aa_length": 427,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597198.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Val363Met",
"transcript": "ENST00000890747.1",
"protein_id": "ENSP00000560806.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 427,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890747.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Val363Met",
"transcript": "ENST00000890751.1",
"protein_id": "ENSP00000560810.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 427,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890751.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Val363Met",
"transcript": "ENST00000921361.1",
"protein_id": "ENSP00000591420.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 427,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921361.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Val363Met",
"transcript": "ENST00000942552.1",
"protein_id": "ENSP00000612611.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 427,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942552.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Val328Met",
"transcript": "NM_001197123.2",
"protein_id": "NP_001184052.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 392,
"cds_start": 982,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197123.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Met",
"transcript": "ENST00000921362.1",
"protein_id": "ENSP00000591421.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 371,
"cds_start": 919,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921362.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Met",
"transcript": "ENST00000942553.1",
"protein_id": "ENSP00000612612.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 371,
"cds_start": 919,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942553.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Met",
"transcript": "ENST00000890748.1",
"protein_id": "ENSP00000560807.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 348,
"cds_start": 850,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890748.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Met",
"transcript": "ENST00000890750.1",
"protein_id": "ENSP00000560809.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 348,
"cds_start": 850,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890750.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Val276Met",
"transcript": "ENST00000890749.1",
"protein_id": "ENSP00000560808.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 340,
"cds_start": 826,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890749.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001197124.2",
"protein_id": "NP_001184053.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 300,
"cds_start": 706,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197124.2"
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"BS2"
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}