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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-38299001-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=38299001&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPGR",
"hgnc_id": 10295,
"hgvs_c": "c.1200T>G",
"hgvs_p": "p.Asn400Lys",
"inheritance_mode": "AD,XL",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001034853.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000250349",
"hgnc_id": null,
"hgvs_c": "c.172-367120A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000465127.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2349,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16635039448738098,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "N",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 3459,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001034853.2",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1200T>G",
"hgvs_p": "p.Asn400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645032.1",
"protein_coding": true,
"protein_id": "NP_001030025.1",
"strand": false,
"transcript": "NM_001034853.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "N",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 3459,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000645032.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1200T>G",
"hgvs_p": "p.Asn400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001034853.2",
"protein_coding": true,
"protein_id": "ENSP00000495537.1",
"strand": false,
"transcript": "ENST00000645032.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 279,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": null,
"cds_end": null,
"cds_length": 840,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000465127.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000250349",
"hgvs_c": "c.172-367120A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417050.1",
"strand": true,
"transcript": "ENST00000465127.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000494841.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "n.463T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000494841.1",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "N",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3686,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 3063,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000339363.7",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1200T>G",
"hgvs_p": "p.Asn400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343671.3",
"strand": false,
"transcript": "ENST00000339363.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 815,
"aa_ref": "N",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 2448,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000328.3",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1200T>G",
"hgvs_p": "p.Asn400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000319.1",
"strand": false,
"transcript": "NM_000328.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 815,
"aa_ref": "N",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 2448,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000642395.2",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1200T>G",
"hgvs_p": "p.Asn400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493468.2",
"strand": false,
"transcript": "ENST00000642395.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 814,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1197,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001367245.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1197T>G",
"hgvs_p": "p.Asn399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354174.1",
"strand": false,
"transcript": "NM_001367245.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 714,
"aa_ref": "N",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1230,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001367248.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1230T>G",
"hgvs_p": "p.Asn410Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354177.1",
"strand": false,
"transcript": "NM_001367248.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 704,
"aa_ref": "N",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001367247.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1200T>G",
"hgvs_p": "p.Asn400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354176.1",
"strand": false,
"transcript": "NM_001367247.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 703,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1197,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001367249.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1197T>G",
"hgvs_p": "p.Asn399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354178.1",
"strand": false,
"transcript": "NM_001367249.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 703,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1197,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001367250.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1197T>G",
"hgvs_p": "p.Asn399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354179.1",
"strand": false,
"transcript": "NM_001367250.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 413,
"aa_ref": "N",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1245,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1243,
"cds_start": 402,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000494707.6",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.402T>G",
"hgvs_p": "p.Asn134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417336.2",
"strand": false,
"transcript": "ENST00000494707.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 378,
"aa_ref": "N",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1286,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1138,
"cds_start": 1107,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000642558.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1107T>G",
"hgvs_p": "p.Asn369Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496427.1",
"strand": false,
"transcript": "ENST00000642558.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 128,
"aa_ref": "N",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 428,
"cdna_start": 266,
"cds_end": null,
"cds_length": 387,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000464437.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.264T>G",
"hgvs_p": "p.Asn88Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417574.1",
"strand": false,
"transcript": "ENST00000464437.1",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "N",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3668,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 3063,
"cds_start": 1200,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047442329.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1200T>G",
"hgvs_p": "p.Asn400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298285.1",
"strand": false,
"transcript": "XM_047442329.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1197,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047442330.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1197T>G",
"hgvs_p": "p.Asn399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298286.1",
"strand": false,
"transcript": "XM_047442330.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 555,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": null,
"cds_end": null,
"cds_length": 1668,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047442331.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.-105T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298287.1",
"strand": false,
"transcript": "XM_047442331.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 753,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": null,
"cds_end": null,
"cds_length": 2262,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367246.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1060-1549T>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354175.1",
"strand": false,
"transcript": "NM_001367246.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 753,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": null,
"cds_end": null,
"cds_length": 2262,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644337.1",
"gene_hgnc_id": 10295,
"gene_symbol": "RPGR",
"hgvs_c": "c.1060-1549T>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494557.1",
"strand": false,
"transcript": "ENST00000644337.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 642,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": null,
"cds_end": null,
"cds_length": 1929,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
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