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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: 14-21317847-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21317847&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21317847,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020366.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "NM_020366.4",
"protein_id": "NP_065099.3",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400017.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020366.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "ENST00000400017.7",
"protein_id": "ENSP00000382895.2",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020366.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400017.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "ENST00000382933.8",
"protein_id": "ENSP00000372391.4",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 612,
"cds_start": 229,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382933.8"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1222A>C",
"hgvs_p": "p.Lys408Gln",
"transcript": "ENST00000557771.5",
"protein_id": "ENSP00000451219.1",
"transcript_support_level": 5,
"aa_start": 408,
"aa_end": null,
"aa_length": 1248,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557771.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1222A>C",
"hgvs_p": "p.Lys408Gln",
"transcript": "ENST00000556336.5",
"protein_id": "ENSP00000450445.1",
"transcript_support_level": 5,
"aa_start": 408,
"aa_end": null,
"aa_length": 943,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556336.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "NM_001377948.1",
"protein_id": "NP_001364877.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 928,
"cds_start": 229,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377948.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "NM_001377949.1",
"protein_id": "NP_001364878.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 648,
"cds_start": 229,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377949.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "NM_001377523.1",
"protein_id": "NP_001364452.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 612,
"cds_start": 229,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377523.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "NM_001377950.1",
"protein_id": "NP_001364879.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 612,
"cds_start": 229,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377950.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "ENST00000557351.1",
"protein_id": "ENSP00000452215.1",
"transcript_support_level": 4,
"aa_start": 77,
"aa_end": null,
"aa_length": 165,
"cds_start": 229,
"cds_end": null,
"cds_length": 500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557351.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_005267879.2",
"protein_id": "XP_005267936.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 929,
"cds_start": 229,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267879.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_011536978.1",
"protein_id": "XP_011535280.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 928,
"cds_start": 229,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536978.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_024449663.1",
"protein_id": "XP_024305431.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 927,
"cds_start": 229,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449663.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_005267880.2",
"protein_id": "XP_005267937.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 918,
"cds_start": 229,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267880.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_011536979.1",
"protein_id": "XP_011535281.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 857,
"cds_start": 229,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536979.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_011536981.1",
"protein_id": "XP_011535283.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 764,
"cds_start": 229,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536981.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_017021473.2",
"protein_id": "XP_016876962.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 763,
"cds_start": 229,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021473.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_024449664.1",
"protein_id": "XP_024305432.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 762,
"cds_start": 229,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449664.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_011536982.1",
"protein_id": "XP_011535284.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 649,
"cds_start": 229,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536982.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_024449666.1",
"protein_id": "XP_024305434.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 647,
"cds_start": 229,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449666.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.229A>C",
"hgvs_p": "p.Lys77Gln",
"transcript": "XM_047431609.1",
"protein_id": "XP_047287565.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 613,
"cds_start": 229,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431609.1"
}
],
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"dbsnp": "rs878853392",
"frequency_reference_population": 6.891723e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.89172e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11427748203277588,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.1129,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.694,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020366.4",
"gene_symbol": "RPGRIP1",
"hgnc_id": 13436,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}