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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: 14-21345126-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21345126&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21345126,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020366.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.3546C>G",
"hgvs_p": "p.Asp1182Glu",
"transcript": "NM_020366.4",
"protein_id": "NP_065099.3",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3546,
"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": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.3546C>G",
"hgvs_p": "p.Asp1182Glu",
"transcript": "ENST00000400017.7",
"protein_id": "ENSP00000382895.2",
"transcript_support_level": 1,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3546,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1971C>G",
"hgvs_p": "p.Asp657Glu",
"transcript": "ENST00000555587.5",
"protein_id": "ENSP00000451262.1",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 761,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555587.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000382933.8",
"protein_id": "ENSP00000372391.4",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 612,
"cds_start": 1524,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1893C>G",
"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": 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": "ENST00000555322.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1559C>G",
"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": 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": "ENST00000555489.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1893C>G",
"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": 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": "ENST00000555322.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1559C>G",
"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": 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": "ENST00000555489.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.3432C>G",
"hgvs_p": "p.Asp1144Glu",
"transcript": "ENST00000557771.5",
"protein_id": "ENSP00000451219.1",
"transcript_support_level": 5,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3432,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2517C>G",
"hgvs_p": "p.Asp839Glu",
"transcript": "ENST00000556336.5",
"protein_id": "ENSP00000450445.1",
"transcript_support_level": 5,
"aa_start": 839,
"aa_end": null,
"aa_length": 943,
"cds_start": 2517,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2472C>G",
"hgvs_p": "p.Asp824Glu",
"transcript": "NM_001377948.1",
"protein_id": "NP_001364877.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 928,
"cds_start": 2472,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1632C>G",
"hgvs_p": "p.Asp544Glu",
"transcript": "NM_001377949.1",
"protein_id": "NP_001364878.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 648,
"cds_start": 1632,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "NM_001377523.1",
"protein_id": "NP_001364452.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 612,
"cds_start": 1524,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "NM_001377950.1",
"protein_id": "NP_001364879.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 612,
"cds_start": 1524,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1029C>G",
"hgvs_p": "p.Asp343Glu",
"transcript": "NM_001377951.1",
"protein_id": "NP_001364880.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 447,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377951.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2475C>G",
"hgvs_p": "p.Asp825Glu",
"transcript": "XM_005267879.2",
"protein_id": "XP_005267936.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 929,
"cds_start": 2475,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2472C>G",
"hgvs_p": "p.Asp824Glu",
"transcript": "XM_011536978.1",
"protein_id": "XP_011535280.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 928,
"cds_start": 2472,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2469C>G",
"hgvs_p": "p.Asp823Glu",
"transcript": "XM_024449663.1",
"protein_id": "XP_024305431.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 927,
"cds_start": 2469,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2442C>G",
"hgvs_p": "p.Asp814Glu",
"transcript": "XM_005267880.2",
"protein_id": "XP_005267937.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 918,
"cds_start": 2442,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2259C>G",
"hgvs_p": "p.Asp753Glu",
"transcript": "XM_011536979.1",
"protein_id": "XP_011535281.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 857,
"cds_start": 2259,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1980C>G",
"hgvs_p": "p.Asp660Glu",
"transcript": "XM_011536981.1",
"protein_id": "XP_011535283.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 764,
"cds_start": 1980,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1977C>G",
"hgvs_p": "p.Asp659Glu",
"transcript": "XM_017021473.2",
"protein_id": "XP_016876962.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 763,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"allele_count_reference_population": 0,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR,AD",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}