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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: 20-63690937-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63690937&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RTEL1",
"hgnc_id": 15888,
"hgvs_c": "c.2546G>A",
"hgvs_p": "p.Gly849Asp",
"inheritance_mode": "AD,SD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001283009.2",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RTEL1-TNFRSF6B",
"hgnc_id": 44095,
"hgvs_c": "n.*148G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000492259.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 21656,
"alphamissense_prediction": null,
"alphamissense_score": 0.0997,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "20",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " 3, Telomere-related, autosomal recessive 5,Dyskeratosis congenita,Pulmonary fibrosis and/or bone marrow failure,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0025148391723632812,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "G",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4615,
"cdna_start": 2871,
"cds_end": null,
"cds_length": 3903,
"cds_start": 2546,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001283009.2",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2546G>A",
"hgvs_p": "p.Gly849Asp",
"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": "D",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "G",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4615,
"cdna_start": 2871,
"cds_end": null,
"cds_length": 3903,
"cds_start": 2546,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000360203.11",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2546G>A",
"hgvs_p": "p.Gly849Asp",
"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": "D",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "G",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 2943,
"cds_end": null,
"cds_length": 3732,
"cds_start": 2618,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000508582.7",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2618G>A",
"hgvs_p": "p.Gly873Asp",
"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": "D",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "G",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4955,
"cdna_start": 3373,
"cds_end": null,
"cds_length": 3660,
"cds_start": 2546,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000370018.7",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2546G>A",
"hgvs_p": "p.Gly849Asp",
"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": 24,
"exon_rank_end": null,
"feature": "ENST00000492259.6",
"gene_hgnc_id": 44095,
"gene_symbol": "RTEL1-TNFRSF6B",
"hgvs_c": "n.*148G>A",
"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": 4,
"exon_rank_end": null,
"feature": "ENST00000496816.5",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "n.425G>A",
"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": 24,
"exon_rank_end": null,
"feature": "ENST00000492259.6",
"gene_hgnc_id": 44095,
"gene_symbol": "RTEL1-TNFRSF6B",
"hgvs_c": "n.*148G>A",
"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": "D",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "G",
"aa_start": 878,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4697,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 3990,
"cds_start": 2633,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000962502.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2633G>A",
"hgvs_p": "p.Gly878Asp",
"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": "D",
"aa_end": null,
"aa_length": 1311,
"aa_ref": "G",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": 2894,
"cds_end": null,
"cds_length": 3936,
"cds_start": 2579,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000962501.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2579G>A",
"hgvs_p": "p.Gly860Asp",
"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": "D",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "G",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 2906,
"cds_end": null,
"cds_length": 3921,
"cds_start": 2564,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000935990.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2564G>A",
"hgvs_p": "p.Gly855Asp",
"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": "D",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "G",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4651,
"cdna_start": 2904,
"cds_end": null,
"cds_length": 3918,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000935986.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2561G>A",
"hgvs_p": "p.Gly854Asp",
"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": "D",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "G",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 3918,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000962500.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2561G>A",
"hgvs_p": "p.Gly854Asp",
"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": "D",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "G",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 2806,
"cds_end": null,
"cds_length": 3903,
"cds_start": 2546,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000897317.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2546G>A",
"hgvs_p": "p.Gly849Asp",
"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": "D",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "G",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4629,
"cdna_start": 2882,
"cds_end": null,
"cds_length": 3903,
"cds_start": 2546,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000935985.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2546G>A",
"hgvs_p": "p.Gly849Asp",
"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": "D",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "G",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": 3310,
"cds_end": null,
"cds_length": 3903,
"cds_start": 2546,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000935993.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2546G>A",
"hgvs_p": "p.Gly849Asp",
"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": "D",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "G",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4619,
"cdna_start": 2874,
"cds_end": null,
"cds_length": 3888,
"cds_start": 2531,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000935987.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Gly844Asp",
"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": "D",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "G",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4611,
"cdna_start": 2867,
"cds_end": null,
"cds_length": 3888,
"cds_start": 2531,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000935988.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2531G>A",
"hgvs_p": "p.Gly844Asp",
"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": "D",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "G",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4591,
"cdna_start": 2846,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2504,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000935989.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Gly835Asp",
"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": "D",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "G",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2504,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000935991.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Gly835Asp",
"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
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "G",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4546,
"cdna_start": 2804,
"cds_end": null,
"cds_length": 3846,
"cds_start": 2489,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000935992.1",
"gene_hgnc_id": 15888,
"gene_symbol": "RTEL1",
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Gly830Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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}