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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: 1-159018233-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=159018233&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 159018233,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001364867.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "NM_001376587.1",
"protein_id": "NP_001363516.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 785,
"cds_start": 554,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295809.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376587.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000295809.12",
"protein_id": "ENSP00000295809.7",
"transcript_support_level": 5,
"aa_start": 185,
"aa_end": null,
"aa_length": 785,
"cds_start": 554,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376587.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295809.12"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000368131.8",
"protein_id": "ENSP00000357113.4",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 729,
"cds_start": 554,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368131.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000368132.7",
"protein_id": "ENSP00000357114.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 729,
"cds_start": 554,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368132.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "n.818C>T",
"hgvs_p": null,
"transcript": "ENST00000483916.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000483916.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000902834.1",
"protein_id": "ENSP00000572893.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 787,
"cds_start": 554,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902834.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000902837.1",
"protein_id": "ENSP00000572896.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 787,
"cds_start": 554,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902837.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "NM_001364867.2",
"protein_id": "NP_001351796.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 785,
"cds_start": 554,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364867.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000902828.1",
"protein_id": "ENSP00000572887.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 785,
"cds_start": 554,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902828.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000946384.1",
"protein_id": "ENSP00000616443.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 785,
"cds_start": 554,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946384.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000902829.1",
"protein_id": "ENSP00000572888.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 778,
"cds_start": 554,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902829.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000902831.1",
"protein_id": "ENSP00000572890.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 731,
"cds_start": 554,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902831.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Pro129Leu",
"transcript": "NM_001206567.2",
"protein_id": "NP_001193496.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 729,
"cds_start": 386,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206567.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "NM_001376588.1",
"protein_id": "NP_001363517.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 729,
"cds_start": 554,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376588.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "NM_001376589.1",
"protein_id": "NP_001363518.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 729,
"cds_start": 554,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376589.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "NM_005531.3",
"protein_id": "NP_005522.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 729,
"cds_start": 554,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005531.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Pro129Leu",
"transcript": "ENST00000359709.7",
"protein_id": "ENSP00000352740.3",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 729,
"cds_start": 386,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359709.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000946383.1",
"protein_id": "ENSP00000616442.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 729,
"cds_start": 554,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946383.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000946385.1",
"protein_id": "ENSP00000616444.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 729,
"cds_start": 554,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946385.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Pro183Leu",
"transcript": "ENST00000902830.1",
"protein_id": "ENSP00000572889.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 727,
"cds_start": 548,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902830.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000902832.1",
"protein_id": "ENSP00000572891.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 727,
"cds_start": 554,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902832.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI16",
"gene_hgnc_id": 5395,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "NM_001376591.1",
"protein_id": "NP_001363520.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 673,
"cds_start": 554,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}