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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: 16-53641363-TAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53641363&ref=TAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "RPGRIP1L",
"hgnc_id": 29168,
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_015272.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " type 5,COACH syndrome 3,Inborn genetic diseases,Joubert syndrome,Joubert syndrome 7,Meckel syndrome,Meckel-Gruber syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1315,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7935,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 3948,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_015272.5",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647211.2",
"protein_coding": true,
"protein_id": "NP_056087.2",
"strand": false,
"transcript": "NM_015272.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1315,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7935,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 3948,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000647211.2",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015272.5",
"protein_coding": true,
"protein_id": "ENSP00000493946.1",
"strand": false,
"transcript": "ENST00000647211.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1281,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 2847,
"cds_end": null,
"cds_length": 3846,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000563746.5",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457889.1",
"strand": false,
"transcript": "ENST00000563746.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1269,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6678,
"cdna_start": 2841,
"cds_end": null,
"cds_length": 3810,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000621565.5",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480698.1",
"strand": false,
"transcript": "ENST00000621565.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1281,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7833,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 3846,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001330538.2",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317467.1",
"strand": false,
"transcript": "NM_001330538.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1273,
"aa_ref": "L",
"aa_start": 936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4488,
"cdna_start": 2854,
"cds_end": null,
"cds_length": 3822,
"cds_start": 2806,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000944945.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2806_2807delTT",
"hgvs_p": "p.Leu936fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615004.1",
"strand": false,
"transcript": "ENST00000944945.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1269,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7797,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 3810,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001308334.3",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295263.1",
"strand": false,
"transcript": "NM_001308334.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1253,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3877,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 3762,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000564374.5",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456534.1",
"strand": false,
"transcript": "ENST00000564374.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1235,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7695,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 3708,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001127897.4",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121369.1",
"strand": false,
"transcript": "NM_001127897.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1235,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7725,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 3708,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000262135.9",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262135.4",
"strand": false,
"transcript": "ENST00000262135.9",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 1207,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 3624,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000935860.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605919.1",
"strand": false,
"transcript": "ENST00000935860.1",
"transcript_support_level": null
},
{
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"aa_length": 1319,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8195,
"cdna_start": 3119,
"cds_end": null,
"cds_length": 3960,
"cds_start": 2806,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047433869.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2806_2807delTT",
"hgvs_p": "p.Leu936fs",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047289825.1",
"strand": false,
"transcript": "XM_047433869.1",
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},
{
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"cdna_length": 8183,
"cdna_start": 3107,
"cds_end": null,
"cds_length": 3948,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047433870.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289826.1",
"strand": false,
"transcript": "XM_047433870.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1281,
"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 8081,
"cdna_start": 3107,
"cds_end": null,
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"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047433871.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047289827.1",
"strand": false,
"transcript": "XM_047433871.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7809,
"cdna_start": 2871,
"cds_end": null,
"cds_length": 3822,
"cds_start": 2806,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_005255868.3",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2806_2807delTT",
"hgvs_p": "p.Leu936fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255925.1",
"strand": false,
"transcript": "XM_005255868.3",
"transcript_support_level": null
},
{
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"aa_length": 1239,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7707,
"cdna_start": 2871,
"cds_end": null,
"cds_length": 3720,
"cds_start": 2806,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017023095.3",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2806_2807delTT",
"hgvs_p": "p.Leu936fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016878584.1",
"strand": false,
"transcript": "XM_017023095.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047433872.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047289828.1",
"strand": false,
"transcript": "XM_047433872.1",
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},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_start": 2859,
"cds_end": null,
"cds_length": 3396,
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"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047433873.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047289829.1",
"strand": false,
"transcript": "XM_047433873.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 3387,
"cds_start": 2806,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011522970.3",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2806_2807delTT",
"hgvs_p": "p.Leu936fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521272.1",
"strand": false,
"transcript": "XM_011522970.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1124,
"aa_ref": "L",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8520,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2794,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047433874.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.2794_2795delTT",
"hgvs_p": "p.Leu932fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289830.1",
"strand": false,
"transcript": "XM_047433874.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
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