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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: 22-38143219-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38143219&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38143219,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000332509.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "NM_003560.4",
"protein_id": "NP_003551.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 806,
"cds_start": 495,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": "ENST00000332509.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "ENST00000332509.8",
"protein_id": "ENSP00000333142.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 806,
"cds_start": 495,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": "NM_003560.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "ENST00000402064.5",
"protein_id": "ENSP00000386100.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 752,
"cds_start": 495,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.5G>T",
"hgvs_p": "p.Gly2Val",
"transcript": "NM_001349868.2",
"protein_id": "NP_001336797.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 580,
"cds_start": 5,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "ENST00000668949.1",
"protein_id": "ENSP00000499711.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 820,
"cds_start": 495,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "NM_001349864.2",
"protein_id": "NP_001336793.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 806,
"cds_start": 495,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "ENST00000660610.1",
"protein_id": "ENSP00000499555.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 806,
"cds_start": 495,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "ENST00000663895.1",
"protein_id": "ENSP00000499712.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 806,
"cds_start": 495,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "ENST00000667521.1",
"protein_id": "ENSP00000499665.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 806,
"cds_start": 495,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "ENST00000664587.1",
"protein_id": "ENSP00000499394.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 760,
"cds_start": 495,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "NM_001004426.3",
"protein_id": "NP_001004426.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 752,
"cds_start": 495,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "NM_001199562.3",
"protein_id": "NP_001186491.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 752,
"cds_start": 495,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "NM_001349865.2",
"protein_id": "NP_001336794.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 752,
"cds_start": 495,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "NM_001349866.2",
"protein_id": "NP_001336795.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 752,
"cds_start": 495,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Gly165Gly",
"transcript": "ENST00000335539.7",
"protein_id": "ENSP00000335149.3",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 752,
"cds_start": 495,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Gly93Gly",
"transcript": "ENST00000430886.5",
"protein_id": "ENSP00000395464.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 165,
"cds_start": 279,
"cds_end": null,
"cds_length": 498,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.421G>T",
"hgvs_p": null,
"transcript": "ENST00000479641.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 571,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000279080",
"gene_hgnc_id": null,
"hgvs_c": "n.13004C>A",
"hgvs_p": null,
"transcript": "ENST00000624072.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 20397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.495G>T",
"hgvs_p": null,
"transcript": "ENST00000655142.1",
"protein_id": "ENSP00000499715.1",
"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": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.*396G>T",
"hgvs_p": null,
"transcript": "ENST00000665987.1",
"protein_id": "ENSP00000499423.1",
"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": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.625G>T",
"hgvs_p": null,
"transcript": "ENST00000668208.1",
"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": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.*326G>T",
"hgvs_p": null,
"transcript": "ENST00000668499.1",
"protein_id": "ENSP00000499626.1",
"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": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.589G>T",
"hgvs_p": null,
"transcript": "ENST00000671093.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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{
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"BP7"
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"verdict": "Likely_benign",
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{
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],
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Infantile neuroaxonal dystrophy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}