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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: 14-94101837-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94101837&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94101837,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145249.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "NM_206949.3",
"protein_id": "NP_996832.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 104,
"cds_start": 85,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555523.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206949.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "ENST00000555523.6",
"protein_id": "ENSP00000451851.1",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 104,
"cds_start": 85,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_206949.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555523.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "ENST00000393115.7",
"protein_id": "ENSP00000376824.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 104,
"cds_start": 85,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393115.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51His",
"transcript": "ENST00000553664.1",
"protein_id": "ENSP00000451043.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 105,
"cds_start": 152,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553664.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "NM_145249.3",
"protein_id": "NP_660292.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 104,
"cds_start": 85,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145249.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "ENST00000909478.1",
"protein_id": "ENSP00000579537.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 104,
"cds_start": 85,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909478.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "ENST00000909481.1",
"protein_id": "ENSP00000579540.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 104,
"cds_start": 85,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909481.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "ENST00000909482.1",
"protein_id": "ENSP00000579541.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 104,
"cds_start": 85,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909482.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "ENST00000909484.1",
"protein_id": "ENSP00000579543.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 104,
"cds_start": 85,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909484.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "ENST00000929340.1",
"protein_id": "ENSP00000599399.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 102,
"cds_start": 85,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929340.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Val28Met",
"transcript": "ENST00000555341.5",
"protein_id": "ENSP00000451608.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 94,
"cds_start": 82,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555341.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Val18Met",
"transcript": "ENST00000929337.1",
"protein_id": "ENSP00000599396.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 93,
"cds_start": 52,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929337.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Val18Met",
"transcript": "ENST00000929338.1",
"protein_id": "ENSP00000599397.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 93,
"cds_start": 52,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929338.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Val18Met",
"transcript": "ENST00000929345.1",
"protein_id": "ENSP00000599404.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 93,
"cds_start": 52,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929345.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Val18Met",
"transcript": "ENST00000929348.1",
"protein_id": "ENSP00000599407.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 93,
"cds_start": 52,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929348.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Val28Met",
"transcript": "ENST00000554166.5",
"protein_id": "ENSP00000452226.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 92,
"cds_start": 82,
"cds_end": null,
"cds_length": 280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554166.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"transcript": "ENST00000554562.1",
"protein_id": "ENSP00000450620.1",
"transcript_support_level": 3,
"aa_start": 29,
"aa_end": null,
"aa_length": 92,
"cds_start": 85,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554562.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Val28Met",
"transcript": "ENST00000556381.5",
"protein_id": "ENSP00000451459.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 91,
"cds_start": 82,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556381.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.62-31G>A",
"hgvs_p": null,
"transcript": "ENST00000909479.1",
"protein_id": "ENSP00000579538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909479.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.62-31G>A",
"hgvs_p": null,
"transcript": "ENST00000909480.1",
"protein_id": "ENSP00000579539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909480.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.62-34G>A",
"hgvs_p": null,
"transcript": "ENST00000909483.1",
"protein_id": "ENSP00000579542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909483.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IFI27L1",
"gene_hgnc_id": 19754,
"hgvs_c": "c.62-34G>A",
"hgvs_p": null,
"transcript": "ENST00000929343.1",
"protein_id": "ENSP00000599402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929343.1"
},
{
"aa_ref": null,
"aa_alt": null,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}