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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: 17-80208249-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80208249&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 80208249,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000648509.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "NM_001366385.1",
"protein_id": "NP_001353314.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3635,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": "ENST00000648509.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "ENST00000648509.2",
"protein_id": "ENSP00000498071.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3635,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": "NM_001366385.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "ENST00000344227.6",
"protein_id": "ENSP00000344549.2",
"transcript_support_level": 1,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2946C>G",
"hgvs_p": "p.Asp982Glu",
"transcript": "ENST00000651672.1",
"protein_id": "ENSP00000499145.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2946,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 3394,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "NM_024110.4",
"protein_id": "NP_077015.2",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "ENST00000571427.2",
"protein_id": "ENSP00000516501.1",
"transcript_support_level": 5,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "ENST00000573882.5",
"protein_id": "ENSP00000458715.1",
"transcript_support_level": 5,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3455,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "XM_011525213.2",
"protein_id": "XP_011523515.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3312,
"cdna_end": null,
"cdna_length": 4394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "XM_011525216.2",
"protein_id": "XP_011523518.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3114,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "XM_011525218.2",
"protein_id": "XP_011523520.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "XM_047436713.1",
"protein_id": "XP_047292669.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3392,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "XM_047436714.1",
"protein_id": "XP_047292670.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3374,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "XM_047436715.1",
"protein_id": "XP_047292671.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "XM_047436716.1",
"protein_id": "XP_047292672.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
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"cdna_start": 3294,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Asp973Glu",
"transcript": "XM_047436717.1",
"protein_id": "XP_047292673.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 3590,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "c.2916C>G",
"hgvs_p": "p.Asp972Glu",
"transcript": "XM_047436718.1",
"protein_id": "XP_047292674.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 3084,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.*1379C>G",
"hgvs_p": null,
"transcript": "ENST00000575500.5",
"protein_id": "ENSP00000460883.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.1676C>G",
"hgvs_p": null,
"transcript": "ENST00000649277.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.*364C>G",
"hgvs_p": null,
"transcript": "ENST00000650867.1",
"protein_id": "ENSP00000498570.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.*1278C>G",
"hgvs_p": null,
"transcript": "ENST00000651068.1",
"protein_id": "ENSP00000498274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.*755C>G",
"hgvs_p": null,
"transcript": "ENST00000703566.1",
"protein_id": "ENSP00000515382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
"hgvs_c": "n.*755C>G",
"hgvs_p": null,
"transcript": "ENST00000703567.1",
"protein_id": "ENSP00000515383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD14",
"gene_hgnc_id": 16446,
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"phenotype_combined": "not provided|Autoinflammatory syndrome|Pityriasis rubra pilaris;Psoriasis 2|CARD14-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
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}
],
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}