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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: 11-72843324-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72843324&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72843324,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014824.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1532G>T",
"hgvs_p": "p.Arg511Leu",
"transcript": "NM_014824.3",
"protein_id": "NP_055639.2",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 740,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409418.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014824.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1532G>T",
"hgvs_p": "p.Arg511Leu",
"transcript": "ENST00000409418.9",
"protein_id": "ENSP00000386722.4",
"transcript_support_level": 2,
"aa_start": 511,
"aa_end": null,
"aa_length": 740,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014824.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409418.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1364G>T",
"hgvs_p": "p.Arg455Leu",
"transcript": "ENST00000311172.11",
"protein_id": "ENSP00000308978.7",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 684,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311172.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1364G>T",
"hgvs_p": "p.Arg455Leu",
"transcript": "ENST00000409853.5",
"protein_id": "ENSP00000386314.1",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 515,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409853.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.*729C>A",
"hgvs_p": null,
"transcript": "ENST00000534905.5",
"protein_id": "ENSP00000441189.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534905.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1604G>T",
"hgvs_p": "p.Arg535Leu",
"transcript": "ENST00000409314.5",
"protein_id": "ENSP00000386987.1",
"transcript_support_level": 5,
"aa_start": 535,
"aa_end": null,
"aa_length": 764,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409314.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1592G>T",
"hgvs_p": "p.Arg531Leu",
"transcript": "ENST00000891583.1",
"protein_id": "ENSP00000561642.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 760,
"cds_start": 1592,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891583.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1577G>T",
"hgvs_p": "p.Arg526Leu",
"transcript": "ENST00000891582.1",
"protein_id": "ENSP00000561641.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 755,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891582.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1532G>T",
"hgvs_p": "p.Arg511Leu",
"transcript": "ENST00000891581.1",
"protein_id": "ENSP00000561640.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 748,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891581.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1526G>T",
"hgvs_p": "p.Arg509Leu",
"transcript": "ENST00000891572.1",
"protein_id": "ENSP00000561631.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 738,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891572.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1436G>T",
"hgvs_p": "p.Arg479Leu",
"transcript": "ENST00000891579.1",
"protein_id": "ENSP00000561638.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 716,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891579.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1436G>T",
"hgvs_p": "p.Arg479Leu",
"transcript": "ENST00000891576.1",
"protein_id": "ENSP00000561635.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 708,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891576.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Arg478Leu",
"transcript": "ENST00000891577.1",
"protein_id": "ENSP00000561636.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 707,
"cds_start": 1433,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891577.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1427G>T",
"hgvs_p": "p.Arg476Leu",
"transcript": "ENST00000891580.1",
"protein_id": "ENSP00000561639.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 705,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891580.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1415G>T",
"hgvs_p": "p.Arg472Leu",
"transcript": "ENST00000960170.1",
"protein_id": "ENSP00000630229.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 701,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960170.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1397G>T",
"hgvs_p": "p.Arg466Leu",
"transcript": "ENST00000891575.1",
"protein_id": "ENSP00000561634.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 695,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891575.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000960169.1",
"protein_id": "ENSP00000630228.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 694,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960169.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000891573.1",
"protein_id": "ENSP00000561632.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 686,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891573.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1310G>T",
"hgvs_p": "p.Arg437Leu",
"transcript": "ENST00000891574.1",
"protein_id": "ENSP00000561633.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 666,
"cds_start": 1310,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891574.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1532G>T",
"hgvs_p": "p.Arg511Leu",
"transcript": "ENST00000960168.1",
"protein_id": "ENSP00000630227.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 623,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960168.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1124G>T",
"hgvs_p": "p.Arg375Leu",
"transcript": "ENST00000458644.6",
"protein_id": "ENSP00000402972.2",
"transcript_support_level": 2,
"aa_start": 375,
"aa_end": null,
"aa_length": 604,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458644.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "ENST00000891578.1",
"protein_id": "ENSP00000561637.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 560,
"cds_start": 992,
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}