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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: 22-46215209-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=46215209&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 46215209,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000407236.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_005036.6",
"protein_id": "NP_005027.2",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 10118,
"mane_select": "ENST00000407236.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000407236.6",
"protein_id": "ENSP00000385523.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 10118,
"mane_select": "NM_005036.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000402126.2",
"protein_id": "ENSP00000385246.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1566,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "n.455C>T",
"hgvs_p": null,
"transcript": "ENST00000493286.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001001928.4",
"protein_id": "NP_001001928.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 10034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001001929.3",
"protein_id": "NP_001001929.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 10034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001362872.2",
"protein_id": "NP_001349801.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 10115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001362873.3",
"protein_id": "NP_001349802.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 10381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001393941.1",
"protein_id": "NP_001380870.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 10031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001393942.1",
"protein_id": "NP_001380871.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 10131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001393943.1",
"protein_id": "NP_001380872.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 10378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001393944.1",
"protein_id": "NP_001380873.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 10294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001393945.1",
"protein_id": "NP_001380874.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
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"cdna_start": 760,
"cdna_end": null,
"cdna_length": 10297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001393946.1",
"protein_id": "NP_001380875.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 463,
"cds_start": 245,
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"cdna_start": 578,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_001393947.1",
"protein_id": "NP_001380876.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 251,
"cds_start": 245,
"cds_end": null,
"cds_length": 756,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 9383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000420804.5",
"protein_id": "ENSP00000414752.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 132,
"cds_start": 245,
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"cds_length": 400,
"cdna_start": 417,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "XM_011530239.3",
"protein_id": "XP_011528541.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
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"cdna_start": 678,
"cdna_end": null,
"cdna_length": 10216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "XM_011530240.3",
"protein_id": "XP_011528542.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 10219,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "XM_047441420.1",
"protein_id": "XP_047297376.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
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"cdna_start": 966,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "XM_047441421.1",
"protein_id": "XP_047297377.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
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"cdna_start": 838,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "XM_047441422.1",
"protein_id": "XP_047297378.1",
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"aa_start": 82,
"aa_end": null,
"aa_length": 468,
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"cdna_start": 806,
"cdna_end": null,
"cdna_length": 10344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "XM_047441423.1",
"protein_id": "XP_047297379.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 468,
"cds_start": 245,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 10279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "XM_047441424.1",
"protein_id": "XP_047297380.1",
"transcript_support_level": null,
"aa_start": 82,
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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": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}