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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: 22-38113591-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38113591&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38113591,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000332509.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2098C>A",
"hgvs_p": "p.Gln700Lys",
"transcript": "NM_003560.4",
"protein_id": "NP_003551.2",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 806,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": "ENST00000332509.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2098C>A",
"hgvs_p": "p.Gln700Lys",
"transcript": "ENST00000332509.8",
"protein_id": "ENSP00000333142.3",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 806,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": "NM_003560.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1936C>A",
"hgvs_p": "p.Gln646Lys",
"transcript": "ENST00000402064.5",
"protein_id": "ENSP00000386100.1",
"transcript_support_level": 1,
"aa_start": 646,
"aa_end": null,
"aa_length": 752,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2140C>A",
"hgvs_p": "p.Gln714Lys",
"transcript": "ENST00000668949.1",
"protein_id": "ENSP00000499711.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 820,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2098C>A",
"hgvs_p": "p.Gln700Lys",
"transcript": "NM_001349864.2",
"protein_id": "NP_001336793.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 806,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2098C>A",
"hgvs_p": "p.Gln700Lys",
"transcript": "ENST00000660610.1",
"protein_id": "ENSP00000499555.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 806,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2098C>A",
"hgvs_p": "p.Gln700Lys",
"transcript": "ENST00000663895.1",
"protein_id": "ENSP00000499712.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 806,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2098C>A",
"hgvs_p": "p.Gln700Lys",
"transcript": "ENST00000667521.1",
"protein_id": "ENSP00000499665.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 806,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1960C>A",
"hgvs_p": "p.Gln654Lys",
"transcript": "ENST00000664587.1",
"protein_id": "ENSP00000499394.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 760,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1936C>A",
"hgvs_p": "p.Gln646Lys",
"transcript": "NM_001004426.3",
"protein_id": "NP_001004426.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 752,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1936C>A",
"hgvs_p": "p.Gln646Lys",
"transcript": "NM_001199562.3",
"protein_id": "NP_001186491.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 752,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1936C>A",
"hgvs_p": "p.Gln646Lys",
"transcript": "NM_001349865.2",
"protein_id": "NP_001336794.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 752,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1936C>A",
"hgvs_p": "p.Gln646Lys",
"transcript": "NM_001349866.2",
"protein_id": "NP_001336795.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 752,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1936C>A",
"hgvs_p": "p.Gln646Lys",
"transcript": "ENST00000335539.7",
"protein_id": "ENSP00000335149.3",
"transcript_support_level": 5,
"aa_start": 646,
"aa_end": null,
"aa_length": 752,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Gln522Lys",
"transcript": "NM_001349867.2",
"protein_id": "NP_001336796.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 628,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1420C>A",
"hgvs_p": "p.Gln474Lys",
"transcript": "NM_001349868.2",
"protein_id": "NP_001336797.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 580,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Gln468Lys",
"transcript": "NM_001349869.2",
"protein_id": "NP_001336798.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 574,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3148,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.*1296C>A",
"hgvs_p": null,
"transcript": "ENST00000436218.6",
"protein_id": "ENSP00000401242.1",
"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": 2172,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.806C>A",
"hgvs_p": null,
"transcript": "ENST00000496409.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 859,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.*956C>A",
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.*1837C>A",
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.*1957C>A",
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
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}
],
"message": null
}