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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: 14-21325300-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21325300&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21325300,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000400017.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2284C>T",
"hgvs_p": "p.Leu762Leu",
"transcript": "NM_020366.4",
"protein_id": "NP_065099.3",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 1286,
"cds_start": 2284,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": "ENST00000400017.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2284C>T",
"hgvs_p": "p.Leu762Leu",
"transcript": "ENST00000400017.7",
"protein_id": "ENSP00000382895.2",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 1286,
"cds_start": 2284,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": "NM_020366.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Leu237Leu",
"transcript": "ENST00000555587.5",
"protein_id": "ENSP00000451262.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 761,
"cds_start": 709,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*631C>T",
"hgvs_p": null,
"transcript": "ENST00000555322.5",
"protein_id": "ENSP00000450662.1",
"transcript_support_level": 1,
"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": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*297C>T",
"hgvs_p": null,
"transcript": "ENST00000555489.5",
"protein_id": "ENSP00000451044.1",
"transcript_support_level": 1,
"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": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*631C>T",
"hgvs_p": null,
"transcript": "ENST00000555322.5",
"protein_id": "ENSP00000450662.1",
"transcript_support_level": 1,
"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": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*297C>T",
"hgvs_p": null,
"transcript": "ENST00000555489.5",
"protein_id": "ENSP00000451044.1",
"transcript_support_level": 1,
"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": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.689-2323C>T",
"hgvs_p": null,
"transcript": "ENST00000382933.8",
"protein_id": "ENSP00000372391.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2170C>T",
"hgvs_p": "p.Leu724Leu",
"transcript": "ENST00000557771.5",
"protein_id": "ENSP00000451219.1",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Leu404Leu",
"transcript": "NM_001377948.1",
"protein_id": "NP_001364877.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 928,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Leu404Leu",
"transcript": "XM_005267879.2",
"protein_id": "XP_005267936.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 929,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Leu404Leu",
"transcript": "XM_011536978.1",
"protein_id": "XP_011535280.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 928,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Leu404Leu",
"transcript": "XM_024449663.1",
"protein_id": "XP_024305431.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 927,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1177C>T",
"hgvs_p": "p.Leu393Leu",
"transcript": "XM_005267880.2",
"protein_id": "XP_005267937.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 918,
"cds_start": 1177,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Leu332Leu",
"transcript": "XM_011536979.1",
"protein_id": "XP_011535281.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 857,
"cds_start": 994,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Leu220Leu",
"transcript": "XM_005267881.3",
"protein_id": "XP_005267938.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 745,
"cds_start": 658,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.397C>T",
"hgvs_p": null,
"transcript": "ENST00000553500.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.1216C>T",
"hgvs_p": null,
"transcript": "ENST00000553927.1",
"protein_id": null,
"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": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1682-2323C>T",
"hgvs_p": null,
"transcript": "ENST00000556336.5",
"protein_id": "ENSP00000450445.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 943,
"cds_start": -4,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.796+575C>T",
"hgvs_p": null,
"transcript": "NM_001377949.1",
"protein_id": "NP_001364878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.689-2323C>T",
"hgvs_p": null,
"transcript": "NM_001377523.1",
"protein_id": "NP_001364452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.689-2323C>T",
"hgvs_p": null,
"transcript": "NM_001377950.1",
"protein_id": "NP_001364879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.191-2323C>T",
"hgvs_p": null,
"transcript": "NM_001377951.1",
"protein_id": "NP_001364880.1",
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{
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3 B:3",
"phenotype_combined": "Cone-rod dystrophy 13|not specified|Leber congenital amaurosis 6;Cone-rod dystrophy 13|Leber congenital amaurosis 6|Retinal dystrophy|RPGRIP1-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}