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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: 14-24240620-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24240620&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24240620,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000267415.12",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Leu287Pro",
"transcript": "NM_001099274.3",
"protein_id": "NP_001092744.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 451,
"cds_start": 860,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": "ENST00000267415.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Leu287Pro",
"transcript": "ENST00000267415.12",
"protein_id": "ENSP00000267415.7",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 451,
"cds_start": 860,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": "NM_001099274.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Leu287Pro",
"transcript": "ENST00000399423.8",
"protein_id": "ENSP00000382350.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 354,
"cds_start": 860,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.755T>C",
"hgvs_p": "p.Leu252Pro",
"transcript": "NM_001363668.2",
"protein_id": "NP_001350597.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 416,
"cds_start": 755,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.755T>C",
"hgvs_p": "p.Leu252Pro",
"transcript": "ENST00000646753.1",
"protein_id": "ENSP00000494065.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 416,
"cds_start": 755,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Leu287Pro",
"transcript": "ENST00000699697.1",
"protein_id": "ENSP00000514527.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 378,
"cds_start": 860,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Leu287Pro",
"transcript": "NM_012461.3",
"protein_id": "NP_036593.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 354,
"cds_start": 860,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.755T>C",
"hgvs_p": "p.Leu252Pro",
"transcript": "ENST00000699687.1",
"protein_id": "ENSP00000514525.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 319,
"cds_start": 755,
"cds_end": null,
"cds_length": 960,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.752T>C",
"hgvs_p": "p.Leu251Pro",
"transcript": "ENST00000557921.3",
"protein_id": "ENSP00000453157.3",
"transcript_support_level": 3,
"aa_start": 251,
"aa_end": null,
"aa_length": 318,
"cds_start": 752,
"cds_end": null,
"cds_length": 957,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.653T>C",
"hgvs_p": "p.Leu218Pro",
"transcript": "ENST00000699686.1",
"protein_id": "ENSP00000514524.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 285,
"cds_start": 653,
"cds_end": null,
"cds_length": 858,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.422T>C",
"hgvs_p": "p.Leu141Pro",
"transcript": "ENST00000558476.5",
"protein_id": "ENSP00000452724.1",
"transcript_support_level": 3,
"aa_start": 141,
"aa_end": null,
"aa_length": 145,
"cds_start": 422,
"cds_end": null,
"cds_length": 439,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Leu73Pro",
"transcript": "XM_017021217.2",
"protein_id": "XP_016876706.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 237,
"cds_start": 218,
"cds_end": null,
"cds_length": 714,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1163T>C",
"hgvs_p": null,
"transcript": "ENST00000557915.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.586T>C",
"hgvs_p": null,
"transcript": "ENST00000559549.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1250T>C",
"hgvs_p": null,
"transcript": "ENST00000699682.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1300T>C",
"hgvs_p": null,
"transcript": "ENST00000699683.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.*453T>C",
"hgvs_p": null,
"transcript": "ENST00000699684.1",
"protein_id": "ENSP00000514523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1064T>C",
"hgvs_p": null,
"transcript": "ENST00000699685.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1060T>C",
"hgvs_p": null,
"transcript": "ENST00000699688.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1416T>C",
"hgvs_p": null,
"transcript": "ENST00000699689.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1613T>C",
"hgvs_p": null,
"transcript": "ENST00000699690.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1757T>C",
"hgvs_p": null,
"transcript": "ENST00000699691.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINF2",
"gene_hgnc_id": 11824,
"hgvs_c": "n.1277T>C",
"hgvs_p": null,
"transcript": "ENST00000699693.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"computational_prediction_selected": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"verdict": "Pathogenic",
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],
"clinvar_disease": " autosomal dominant 1,Dyskeratosis congenita,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2 O:1",
"phenotype_combined": "Dyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}