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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: X-40605752-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40605752&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40605752,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005765.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.1050T>A",
"hgvs_p": "p.Asp350Glu",
"transcript": "NM_005765.3",
"protein_id": "NP_005756.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 350,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000636580.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005765.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.1050T>A",
"hgvs_p": "p.Asp350Glu",
"transcript": "ENST00000636580.2",
"protein_id": "ENSP00000490083.1",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 350,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005765.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636580.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*503T>A",
"hgvs_p": null,
"transcript": "ENST00000636639.1",
"protein_id": "ENSP00000490382.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636639.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*503T>A",
"hgvs_p": null,
"transcript": "ENST00000636639.1",
"protein_id": "ENSP00000490382.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636639.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.1101T>A",
"hgvs_p": "p.Asp367Glu",
"transcript": "ENST00000901377.1",
"protein_id": "ENSP00000571436.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 367,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901377.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000378438.9",
"protein_id": "ENSP00000367697.5",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 349,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378438.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.1035T>A",
"hgvs_p": "p.Asp345Glu",
"transcript": "ENST00000636196.1",
"protein_id": "ENSP00000490675.1",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 345,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636196.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.996T>A",
"hgvs_p": "p.Asp332Glu",
"transcript": "ENST00000901375.1",
"protein_id": "ENSP00000571434.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 332,
"cds_start": 996,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901375.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.993T>A",
"hgvs_p": "p.Asp331Glu",
"transcript": "ENST00000638153.1",
"protein_id": "ENSP00000490239.1",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 331,
"cds_start": 993,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638153.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.972T>A",
"hgvs_p": "p.Asp324Glu",
"transcript": "ENST00000972163.1",
"protein_id": "ENSP00000642222.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 324,
"cds_start": 972,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972163.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.954T>A",
"hgvs_p": "p.Asp318Glu",
"transcript": "ENST00000636409.1",
"protein_id": "ENSP00000489819.1",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 318,
"cds_start": 954,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636409.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.951T>A",
"hgvs_p": "p.Asp317Glu",
"transcript": "ENST00000636287.1",
"protein_id": "ENSP00000490452.1",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 317,
"cds_start": 951,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636287.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.918T>A",
"hgvs_p": "p.Asp306Glu",
"transcript": "ENST00000972162.1",
"protein_id": "ENSP00000642221.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 306,
"cds_start": 918,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972162.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.912T>A",
"hgvs_p": "p.Asp304Glu",
"transcript": "ENST00000901376.1",
"protein_id": "ENSP00000571435.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 304,
"cds_start": 912,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901376.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.903T>A",
"hgvs_p": "p.Asp301Glu",
"transcript": "ENST00000637526.1",
"protein_id": "ENSP00000489845.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 301,
"cds_start": 903,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637526.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.879T>A",
"hgvs_p": "p.Asp293Glu",
"transcript": "ENST00000637955.1",
"protein_id": "ENSP00000489622.1",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 293,
"cds_start": 879,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637955.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.822T>A",
"hgvs_p": "p.Asp274Glu",
"transcript": "ENST00000637327.1",
"protein_id": "ENSP00000490558.1",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 274,
"cds_start": 822,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637327.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.822T>A",
"hgvs_p": "p.Asp274Glu",
"transcript": "ENST00000972161.1",
"protein_id": "ENSP00000642220.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 274,
"cds_start": 822,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972161.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.819T>A",
"hgvs_p": "p.Asp273Glu",
"transcript": "ENST00000636251.1",
"protein_id": "ENSP00000489920.1",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 273,
"cds_start": 819,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636251.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.816T>A",
"hgvs_p": "p.Asp272Glu",
"transcript": "ENST00000423649.2",
"protein_id": "ENSP00000410105.2",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 272,
"cds_start": 816,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423649.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.813T>A",
"hgvs_p": "p.Asp271Glu",
"transcript": "ENST00000972164.1",
"protein_id": "ENSP00000642223.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 271,
"cds_start": 813,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972164.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.726T>A",
"hgvs_p": "p.Asp242Glu",
"transcript": "ENST00000636970.1",
"protein_id": "ENSP00000490462.1",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 242,
"cds_start": 726,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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}
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}