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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-38286592-CCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=38286592&ref=CCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 38286592,
"ref": "CCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001034853.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2405_2406delAG",
"hgvs_p": "p.Glu802fs",
"transcript": "NM_001034853.2",
"protein_id": "NP_001030025.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2405,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645032.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034853.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2405_2406delAG",
"hgvs_p": "p.Glu802fs",
"transcript": "ENST00000645032.1",
"protein_id": "ENSP00000495537.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2405,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001034853.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250349",
"gene_hgnc_id": null,
"hgvs_c": "c.172-379526_172-379525delCT",
"hgvs_p": null,
"transcript": "ENST00000465127.1",
"protein_id": "ENSP00000417050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2520+500_2520+501delAG",
"hgvs_p": null,
"transcript": "ENST00000339363.7",
"protein_id": "ENSP00000343671.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1020,
"cds_start": null,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339363.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1905+500_1905+501delAG",
"hgvs_p": null,
"transcript": "NM_000328.3",
"protein_id": "NP_000319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 815,
"cds_start": null,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000328.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1905+500_1905+501delAG",
"hgvs_p": null,
"transcript": "ENST00000642395.2",
"protein_id": "ENSP00000493468.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 815,
"cds_start": null,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642395.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1902+500_1902+501delAG",
"hgvs_p": null,
"transcript": "NM_001367245.1",
"protein_id": "NP_001354174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367245.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1719+500_1719+501delAG",
"hgvs_p": null,
"transcript": "NM_001367246.1",
"protein_id": "NP_001354175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": null,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1719+500_1719+501delAG",
"hgvs_p": null,
"transcript": "ENST00000644337.1",
"protein_id": "ENSP00000494557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": null,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1602+4365_1602+4366delAG",
"hgvs_p": null,
"transcript": "NM_001367248.1",
"protein_id": "NP_001354177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": null,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1572+4365_1572+4366delAG",
"hgvs_p": null,
"transcript": "NM_001367247.1",
"protein_id": "NP_001354176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 704,
"cds_start": null,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367247.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1569+4365_1569+4366delAG",
"hgvs_p": null,
"transcript": "NM_001367249.1",
"protein_id": "NP_001354178.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367249.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1569+4365_1569+4366delAG",
"hgvs_p": null,
"transcript": "NM_001367250.1",
"protein_id": "NP_001354179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367250.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1386+4365_1386+4366delAG",
"hgvs_p": null,
"transcript": "NM_001367251.1",
"protein_id": "NP_001354180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1386+4365_1386+4366delAG",
"hgvs_p": null,
"transcript": "ENST00000644238.1",
"protein_id": "ENSP00000496728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644238.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.951+1271_951+1272delAG",
"hgvs_p": null,
"transcript": "ENST00000494707.6",
"protein_id": "ENSP00000417336.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 413,
"cds_start": null,
"cds_end": null,
"cds_length": 1243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494707.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2520+500_2520+501delAG",
"hgvs_p": null,
"transcript": "XM_047442329.1",
"protein_id": "XP_047298285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1020,
"cds_start": null,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442329.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2517+500_2517+501delAG",
"hgvs_p": null,
"transcript": "XM_047442330.1",
"protein_id": "XP_047298286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": null,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442330.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1125+500_1125+501delAG",
"hgvs_p": null,
"transcript": "XM_047442331.1",
"protein_id": "XP_047298287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": null,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.*37+4365_*37+4366delAG",
"hgvs_p": null,
"transcript": "ENST00000474584.5",
"protein_id": "ENSP00000418926.1",
"transcript_support_level": 2,
"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": "ENST00000474584.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.1905+500_1905+501delAG",
"hgvs_p": null,
"transcript": "ENST00000482855.5",
"protein_id": "ENSP00000419276.1",
"transcript_support_level": 2,
"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": "ENST00000482855.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.1826+4365_1826+4366delAG",
"hgvs_p": null,
"transcript": "ENST00000642170.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000642170.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"allele_count_reference_population": 4,
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"computational_score_selected": null,
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"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 0.498,
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"spliceai_max_score": 0,
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"mitotip_score": null,
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"acmg_score": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP1_Strong,PS4,PP4_Moderate,PVS1,PM2_Supporting",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PP1_Strong",
"PS4",
"PP4_Moderate",
"PVS1",
"PM2_Supporting"
],
"verdict": "Pathogenic",
"transcript": "NM_001034853.2",
"gene_symbol": "RPGR",
"hgnc_id": 10295,
"effects": [
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],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.2405_2406delAG",
"hgvs_p": "p.Glu802fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000465127.1",
"gene_symbol": "ENSG00000250349",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.172-379526_172-379525delCT",
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}
],
"clinvar_disease": " X-linked, X-linked atrophic, and sinorespiratory infections, with or without deafness,Inborn genetic diseases,Macular degeneration,Primary ciliary dyskinesia,RPGR-related retinopathy,Retinal dystrophy,Retinitis pigmentosa,Retinitis pigmentosa 3,X-linked cone-rod dystrophy 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:15 LP:3",
"phenotype_combined": "Retinitis pigmentosa 3|Inborn genetic diseases|not provided|Retinal dystrophy|Retinitis pigmentosa|Primary ciliary dyskinesia|X-linked cone-rod dystrophy 1|Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness;X-linked cone-rod dystrophy 1;Macular degeneration, X-linked atrophic|RPGR-related retinopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}