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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-40600881-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40600881&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40600881,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_005765.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.858G>A",
"hgvs_p": "p.Ala286Ala",
"transcript": "NM_005765.3",
"protein_id": "NP_005756.2",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 350,
"cds_start": 858,
"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": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.858G>A",
"hgvs_p": "p.Ala286Ala",
"transcript": "ENST00000636580.2",
"protein_id": "ENSP00000490083.1",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 350,
"cds_start": 858,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*311G>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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "n.*311G>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": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.*49G>A",
"hgvs_p": null,
"transcript": "ENST00000447485.6",
"protein_id": "ENSP00000411317.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447485.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.909G>A",
"hgvs_p": "p.Ala303Ala",
"transcript": "ENST00000901377.1",
"protein_id": "ENSP00000571436.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 367,
"cds_start": 909,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.858G>A",
"hgvs_p": "p.Ala286Ala",
"transcript": "ENST00000378438.9",
"protein_id": "ENSP00000367697.5",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 349,
"cds_start": 858,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.843G>A",
"hgvs_p": "p.Ala281Ala",
"transcript": "ENST00000636196.1",
"protein_id": "ENSP00000490675.1",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 345,
"cds_start": 843,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Ala268Ala",
"transcript": "ENST00000901375.1",
"protein_id": "ENSP00000571434.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 332,
"cds_start": 804,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Ala267Ala",
"transcript": "ENST00000638153.1",
"protein_id": "ENSP00000490239.1",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 331,
"cds_start": 801,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Ala260Ala",
"transcript": "ENST00000972163.1",
"protein_id": "ENSP00000642222.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 324,
"cds_start": 780,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.762G>A",
"hgvs_p": "p.Ala254Ala",
"transcript": "ENST00000636409.1",
"protein_id": "ENSP00000489819.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 318,
"cds_start": 762,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.762G>A",
"hgvs_p": "p.Ala254Ala",
"transcript": "ENST00000636287.1",
"protein_id": "ENSP00000490452.1",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 317,
"cds_start": 762,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Ala242Ala",
"transcript": "ENST00000972162.1",
"protein_id": "ENSP00000642221.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 306,
"cds_start": 726,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Ala240Ala",
"transcript": "ENST00000901376.1",
"protein_id": "ENSP00000571435.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 304,
"cds_start": 720,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.711G>A",
"hgvs_p": "p.Ala237Ala",
"transcript": "ENST00000637526.1",
"protein_id": "ENSP00000489845.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 301,
"cds_start": 711,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.630G>A",
"hgvs_p": "p.Ala210Ala",
"transcript": "ENST00000637327.1",
"protein_id": "ENSP00000490558.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 274,
"cds_start": 630,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.630G>A",
"hgvs_p": "p.Ala210Ala",
"transcript": "ENST00000972161.1",
"protein_id": "ENSP00000642220.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 274,
"cds_start": 630,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.630G>A",
"hgvs_p": "p.Ala210Ala",
"transcript": "ENST00000636251.1",
"protein_id": "ENSP00000489920.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 273,
"cds_start": 630,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.624G>A",
"hgvs_p": "p.Ala208Ala",
"transcript": "ENST00000423649.2",
"protein_id": "ENSP00000410105.2",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 272,
"cds_start": 624,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
"hgvs_c": "c.624G>A",
"hgvs_p": "p.Ala208Ala",
"transcript": "ENST00000972164.1",
"protein_id": "ENSP00000642223.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 271,
"cds_start": 624,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6AP2",
"gene_hgnc_id": 18305,
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"allele_count_reference_population": 0,
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"computational_source_selected": "REVEL",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
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{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005765.3",
"gene_symbol": "ATP6AP2",
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"effects": [
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],
"inheritance_mode": "XL,AR,Unknown",
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}
],
"clinvar_disease": " type IIr,Congenital disorder of glycosylation,Inborn genetic diseases,Syndromic X-linked intellectual disability Hedera type,X-linked parkinsonism-spasticity syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Syndromic X-linked intellectual disability Hedera type|Inborn genetic diseases|not provided|Syndromic X-linked intellectual disability Hedera type;X-linked parkinsonism-spasticity syndrome;Congenital disorder of glycosylation, type IIr",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}