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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: 14-24240737-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24240737&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TINF2",
"hgnc_id": 11824,
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Thr248Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001099274.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 94,
"alphamissense_prediction": null,
"alphamissense_score": 0.0791,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "14",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Dyskeratosis congenita",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04009127616882324,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 451,
"aa_ref": "T",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1356,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001099274.3",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Thr248Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267415.12",
"protein_coding": true,
"protein_id": "NP_001092744.1",
"strand": false,
"transcript": "NM_001099274.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 451,
"aa_ref": "T",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1356,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000267415.12",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Thr248Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001099274.3",
"protein_coding": true,
"protein_id": "ENSP00000267415.7",
"strand": false,
"transcript": "ENST00000267415.12",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 354,
"aa_ref": "T",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1065,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000399423.8",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Thr248Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382350.4",
"strand": false,
"transcript": "ENST00000399423.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 433,
"aa_ref": "T",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1302,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000943625.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Thr248Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613684.1",
"strand": false,
"transcript": "ENST00000943625.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "T",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1275,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911300.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Thr248Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581359.1",
"strand": false,
"transcript": "ENST00000911300.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 416,
"aa_ref": "T",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1251,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363668.2",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350597.1",
"strand": false,
"transcript": "NM_001363668.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 416,
"aa_ref": "T",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1251,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000646753.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494065.1",
"strand": false,
"transcript": "ENST00000646753.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 415,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1699,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1248,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943624.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613683.1",
"strand": false,
"transcript": "ENST00000943624.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 378,
"aa_ref": "T",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1137,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000699697.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Thr248Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514527.1",
"strand": false,
"transcript": "ENST00000699697.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 354,
"aa_ref": "T",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1065,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_012461.3",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Thr248Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036593.2",
"strand": false,
"transcript": "NM_012461.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 319,
"aa_ref": "T",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 784,
"cds_end": null,
"cds_length": 960,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000699687.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514525.1",
"strand": false,
"transcript": "ENST00000699687.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 318,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 710,
"cds_end": null,
"cds_length": 957,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000557921.3",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453157.3",
"strand": false,
"transcript": "ENST00000557921.3",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 285,
"aa_ref": "T",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 563,
"cds_end": null,
"cds_length": 858,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000699686.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Thr179Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514524.1",
"strand": false,
"transcript": "ENST00000699686.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 145,
"aa_ref": "T",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": 760,
"cds_end": null,
"cds_length": 439,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000558476.5",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452724.1",
"strand": false,
"transcript": "ENST00000558476.5",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 237,
"aa_ref": "T",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 985,
"cdna_start": 218,
"cds_end": null,
"cds_length": 714,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017021217.2",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Thr34Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876706.1",
"strand": false,
"transcript": "XM_017021217.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 177,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": null,
"cds_end": null,
"cds_length": 534,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000699701.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.*123C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514528.1",
"strand": false,
"transcript": "ENST00000699701.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000558566.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.*115C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453025.1",
"strand": false,
"transcript": "ENST00000558566.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 71,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 885,
"cdna_start": null,
"cds_end": null,
"cds_length": 216,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559019.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.*115C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453675.1",
"strand": false,
"transcript": "ENST00000559019.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": null,
"cds_end": null,
"cds_length": 543,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011536642.3",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "c.*123C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534944.1",
"strand": false,
"transcript": "XM_011536642.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000557915.2",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "n.1046C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000557915.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000559549.1",
"gene_hgnc_id": 11824,
"gene_symbol": "TINF2",
"hgvs_c": "n.469C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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