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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: 20-63695090-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63695090&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63695090,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001283009.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3370delC",
"hgvs_p": "p.His1124fs",
"transcript": "NM_001283009.2",
"protein_id": "NP_001269938.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3370,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360203.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283009.2"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3370delC",
"hgvs_p": "p.His1124fs",
"transcript": "ENST00000360203.11",
"protein_id": "ENSP00000353332.5",
"transcript_support_level": 5,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3370,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001283009.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360203.11"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3442delC",
"hgvs_p": "p.His1148fs",
"transcript": "ENST00000508582.7",
"protein_id": "ENSP00000424307.2",
"transcript_support_level": 2,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508582.7"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3370delC",
"hgvs_p": "p.His1124fs",
"transcript": "ENST00000370018.7",
"protein_id": "ENSP00000359035.3",
"transcript_support_level": 1,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3370,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370018.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1-TNFRSF6B",
"gene_hgnc_id": 44095,
"hgvs_c": "n.*972delC",
"hgvs_p": null,
"transcript": "ENST00000492259.6",
"protein_id": "ENSP00000457428.1",
"transcript_support_level": 5,
"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": "ENST00000492259.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.*351delC",
"hgvs_p": null,
"transcript": "ENST00000496816.5",
"protein_id": "ENSP00000425576.1",
"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": "ENST00000496816.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1-TNFRSF6B",
"gene_hgnc_id": 44095,
"hgvs_c": "n.*972delC",
"hgvs_p": null,
"transcript": "ENST00000492259.6",
"protein_id": "ENSP00000457428.1",
"transcript_support_level": 5,
"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": "ENST00000492259.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "n.*351delC",
"hgvs_p": null,
"transcript": "ENST00000496816.5",
"protein_id": "ENSP00000425576.1",
"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": "ENST00000496816.5"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3457delC",
"hgvs_p": "p.His1153fs",
"transcript": "ENST00000962502.1",
"protein_id": "ENSP00000632561.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3457,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962502.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3403delC",
"hgvs_p": "p.His1135fs",
"transcript": "ENST00000962501.1",
"protein_id": "ENSP00000632560.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3403,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962501.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3388delC",
"hgvs_p": "p.His1130fs",
"transcript": "ENST00000935990.1",
"protein_id": "ENSP00000606049.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3388,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935990.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3385delC",
"hgvs_p": "p.His1129fs",
"transcript": "ENST00000935986.1",
"protein_id": "ENSP00000606045.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3385,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935986.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3385delC",
"hgvs_p": "p.His1129fs",
"transcript": "ENST00000962500.1",
"protein_id": "ENSP00000632559.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3385,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962500.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3370delC",
"hgvs_p": "p.His1124fs",
"transcript": "ENST00000897317.1",
"protein_id": "ENSP00000567376.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3370,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897317.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3370delC",
"hgvs_p": "p.His1124fs",
"transcript": "ENST00000935985.1",
"protein_id": "ENSP00000606044.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3370,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935985.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3370delC",
"hgvs_p": "p.His1124fs",
"transcript": "ENST00000935993.1",
"protein_id": "ENSP00000606052.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3370,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935993.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3355delC",
"hgvs_p": "p.His1119fs",
"transcript": "ENST00000935987.1",
"protein_id": "ENSP00000606046.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935987.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3355delC",
"hgvs_p": "p.His1119fs",
"transcript": "ENST00000935988.1",
"protein_id": "ENSP00000606047.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935988.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3328delC",
"hgvs_p": "p.His1110fs",
"transcript": "ENST00000935989.1",
"protein_id": "ENSP00000606048.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935989.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3328delC",
"hgvs_p": "p.His1110fs",
"transcript": "ENST00000935991.1",
"protein_id": "ENSP00000606050.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935991.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3313delC",
"hgvs_p": "p.His1105fs",
"transcript": "ENST00000935992.1",
"protein_id": "ENSP00000606051.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935992.1"
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTEL1",
"gene_hgnc_id": 15888,
"hgvs_c": "c.3271delC",
"hgvs_p": "p.His1091fs",
"transcript": "ENST00000897316.1",
"protein_id": "ENSP00000567375.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
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"cdna_length": null,
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],
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"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 12,
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"criteria": [
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"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001283009.2",
"gene_symbol": "RTEL1",
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"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
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},
{
"score": 4,
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"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000492259.6",
"gene_symbol": "RTEL1-TNFRSF6B",
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],
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"hgvs_c": "n.*972delC",
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}
],
"clinvar_disease": "Dyskeratosis congenita",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Dyskeratosis congenita",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}