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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: 15-44668371-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44668371&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 44668371,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145112.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "NM_001387263.1",
"protein_id": "NP_001374192.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682850.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387263.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "ENST00000682850.1",
"protein_id": "ENSP00000508024.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387263.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682850.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "NM_001145112.2",
"protein_id": "NP_001138584.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145112.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "NM_001387261.1",
"protein_id": "NP_001374190.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387261.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "NM_001387262.1",
"protein_id": "NP_001374191.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387262.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "ENST00000434130.6",
"protein_id": "ENSP00000416673.1",
"transcript_support_level": 5,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434130.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "ENST00000890223.1",
"protein_id": "ENSP00000560282.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890223.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "ENST00000890225.1",
"protein_id": "ENSP00000560284.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890225.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "ENST00000890226.1",
"protein_id": "ENSP00000560285.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890226.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "ENST00000890227.1",
"protein_id": "ENSP00000560286.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890227.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "ENST00000890228.1",
"protein_id": "ENSP00000560287.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890228.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "ENST00000941555.1",
"protein_id": "ENSP00000611614.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 543,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941555.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Trp",
"transcript": "NM_001387260.1",
"protein_id": "NP_001374189.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 512,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387260.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Trp",
"transcript": "NM_001387264.1",
"protein_id": "NP_001374193.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 512,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387264.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Trp",
"transcript": "ENST00000890224.1",
"protein_id": "ENSP00000560283.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 512,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890224.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Trp",
"transcript": "ENST00000941556.1",
"protein_id": "ENSP00000611615.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 512,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941556.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257Trp",
"transcript": "NM_001330283.2",
"protein_id": "NP_001317212.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 354,
"cds_start": 769,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330283.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257Trp",
"transcript": "ENST00000560780.1",
"protein_id": "ENSP00000453695.1",
"transcript_support_level": 2,
"aa_start": 257,
"aa_end": null,
"aa_length": 354,
"cds_start": 769,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560780.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.115C>T",
"hgvs_p": "p.Arg39Trp",
"transcript": "ENST00000558809.1",
"protein_id": "ENSP00000453723.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 158,
"cds_start": 115,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558809.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "XM_011521336.3",
"protein_id": "XP_011519638.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 603,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521336.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1441C>T",
"hgvs_p": "p.Arg481Trp",
"transcript": "XM_011521337.3",
"protein_id": "XP_011519639.2",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 600,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521337.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "XM_011521338.4",
"protein_id": "XP_011519640.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 565,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Oocyte maturation defect 4",
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}
],
"message": null
}