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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: 20-63694428-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63694428&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RTEL1",
"hgnc_id": 15888,
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Asp1017Tyr",
"inheritance_mode": "AD,SD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001283009.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RTEL1-TNFRSF6B",
"hgnc_id": 44095,
"hgvs_c": "n.*651G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000492259.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1199,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 3, Telomere-related, autosomal recessive 5,Dyskeratosis congenita,Pulmonary fibrosis and/or bone marrow failure",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6860108971595764,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "D",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4615,
"cdna_start": 3374,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3049,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001283009.2",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Asp1017Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360203.11",
"protein_coding": true,
"protein_id": "NP_001269938.1",
"strand": true,
"transcript": "NM_001283009.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "D",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4615,
"cdna_start": 3374,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3049,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000360203.11",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Asp1017Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001283009.2",
"protein_coding": true,
"protein_id": "ENSP00000353332.5",
"strand": true,
"transcript": "ENST00000360203.11",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "D",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 3446,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3121,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000508582.7",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3121G>T",
"hgvs_p": "p.Asp1041Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424307.2",
"strand": true,
"transcript": "ENST00000508582.7",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "D",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4955,
"cdna_start": 3876,
"cds_end": null,
"cds_length": 3660,
"cds_start": 3049,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000370018.7",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Asp1017Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359035.3",
"strand": true,
"transcript": "ENST00000370018.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000492259.6",
"gene_hgnc_id": 44095,
"gene_symbol": "RTEL1-TNFRSF6B",
"hgvs_c": "n.*651G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457428.1",
"strand": true,
"transcript": "ENST00000492259.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000496816.5",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "n.*30G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425576.1",
"strand": true,
"transcript": "ENST00000496816.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 35,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000492259.6",
"gene_hgnc_id": 44095,
"gene_symbol": "RTEL1-TNFRSF6B",
"hgvs_c": "n.*651G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457428.1",
"strand": true,
"transcript": "ENST00000492259.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000496816.5",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "n.*30G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425576.1",
"strand": true,
"transcript": "ENST00000496816.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "D",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4697,
"cdna_start": 3460,
"cds_end": null,
"cds_length": 3990,
"cds_start": 3136,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000962502.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3136G>T",
"hgvs_p": "p.Asp1046Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632561.1",
"strand": true,
"transcript": "ENST00000962502.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1311,
"aa_ref": "D",
"aa_start": 1028,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": 3397,
"cds_end": null,
"cds_length": 3936,
"cds_start": 3082,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000962501.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3082G>T",
"hgvs_p": "p.Asp1028Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632560.1",
"strand": true,
"transcript": "ENST00000962501.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "D",
"aa_start": 1023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 3409,
"cds_end": null,
"cds_length": 3921,
"cds_start": 3067,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000935990.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3067G>T",
"hgvs_p": "p.Asp1023Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606049.1",
"strand": true,
"transcript": "ENST00000935990.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "D",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4651,
"cdna_start": 3407,
"cds_end": null,
"cds_length": 3918,
"cds_start": 3064,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000935986.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3064G>T",
"hgvs_p": "p.Asp1022Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606045.1",
"strand": true,
"transcript": "ENST00000935986.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "D",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 3400,
"cds_end": null,
"cds_length": 3918,
"cds_start": 3064,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962500.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3064G>T",
"hgvs_p": "p.Asp1022Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632559.1",
"strand": true,
"transcript": "ENST00000962500.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "D",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 3309,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3049,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000897317.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Asp1017Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567376.1",
"strand": true,
"transcript": "ENST00000897317.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "D",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4629,
"cdna_start": 3385,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3049,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000935985.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Asp1017Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606044.1",
"strand": true,
"transcript": "ENST00000935985.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "D",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": 3813,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3049,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000935993.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Asp1017Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606052.1",
"strand": true,
"transcript": "ENST00000935993.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "D",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4619,
"cdna_start": 3377,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3034,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000935987.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3034G>T",
"hgvs_p": "p.Asp1012Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606046.1",
"strand": true,
"transcript": "ENST00000935987.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "D",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4611,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3034,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000935988.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3034G>T",
"hgvs_p": "p.Asp1012Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606047.1",
"strand": true,
"transcript": "ENST00000935988.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "D",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4591,
"cdna_start": 3349,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3007,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000935989.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3007G>T",
"hgvs_p": "p.Asp1003Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606048.1",
"strand": true,
"transcript": "ENST00000935989.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "D",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 3336,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3007,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000935991.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.3007G>T",
"hgvs_p": "p.Asp1003Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606050.1",
"strand": true,
"transcript": "ENST00000935991.1",
"transcript_support_level": null
},
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