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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-38310690-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=38310690&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 38310690,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000645032.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "NM_001034853.2",
"protein_id": "NP_001030025.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1152,
"cds_start": 703,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "ENST00000645032.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "ENST00000645032.1",
"protein_id": "ENSP00000495537.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1152,
"cds_start": 703,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "NM_001034853.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.172-355431G>A",
"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": -4,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "ENST00000339363.7",
"protein_id": "ENSP00000343671.3",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 1020,
"cds_start": 703,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "NM_000328.3",
"protein_id": "NP_000319.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 815,
"cds_start": 703,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "ENST00000642395.2",
"protein_id": "ENSP00000493468.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 815,
"cds_start": 703,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.Pro234Ser",
"transcript": "NM_001367245.1",
"protein_id": "NP_001354174.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 814,
"cds_start": 700,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "NM_001367246.1",
"protein_id": "NP_001354175.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 753,
"cds_start": 703,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "ENST00000644337.1",
"protein_id": "ENSP00000494557.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 753,
"cds_start": 703,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Pro245Ser",
"transcript": "NM_001367248.1",
"protein_id": "NP_001354177.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 714,
"cds_start": 733,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "NM_001367247.1",
"protein_id": "NP_001354176.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 704,
"cds_start": 703,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.Pro234Ser",
"transcript": "NM_001367249.1",
"protein_id": "NP_001354178.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 703,
"cds_start": 700,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.Pro234Ser",
"transcript": "NM_001367250.1",
"protein_id": "NP_001354179.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 703,
"cds_start": 700,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "NM_001367251.1",
"protein_id": "NP_001354180.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 642,
"cds_start": 703,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "ENST00000644238.1",
"protein_id": "ENSP00000496728.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 642,
"cds_start": 703,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Pro204Ser",
"transcript": "ENST00000642558.1",
"protein_id": "ENSP00000496427.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 378,
"cds_start": 610,
"cds_end": null,
"cds_length": 1138,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "ENST00000647261.1",
"protein_id": "ENSP00000493681.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 325,
"cds_start": 703,
"cds_end": null,
"cds_length": 978,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Pro235Ser",
"transcript": "XM_047442329.1",
"protein_id": "XP_047298285.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1020,
"cds_start": 703,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.Pro234Ser",
"transcript": "XM_047442330.1",
"protein_id": "XP_047298286.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 1019,
"cds_start": 700,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.703C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.703C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.1113C>T",
"hgvs_p": null,
"transcript": "ENST00000642170.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.*282C>T",
"hgvs_p": null,
"transcript": "ENST00000642373.1",
"protein_id": "ENSP00000496030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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{
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],
"clinvar_disease": "Retinitis pigmentosa 3,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not provided|Retinitis pigmentosa 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}