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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: 7-115968301-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=115968301&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 115968301,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000265440.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "n.13A>C",
"hgvs_p": null,
"transcript": "ENST00000497829.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.267+5869A>C",
"hgvs_p": null,
"transcript": "NM_012252.4",
"protein_id": "NP_036384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": "ENST00000265440.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.267+5869A>C",
"hgvs_p": null,
"transcript": "ENST00000265440.12",
"protein_id": "ENSP00000265440.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": "NM_012252.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.181-11508A>C",
"hgvs_p": null,
"transcript": "ENST00000320239.11",
"protein_id": "ENSP00000318676.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.-51A>C",
"hgvs_p": null,
"transcript": "NM_001244583.2",
"protein_id": "NP_001231512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.-51A>C",
"hgvs_p": null,
"transcript": "ENST00000457268.5",
"protein_id": "ENSP00000387650.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.181-11508A>C",
"hgvs_p": null,
"transcript": "NM_001018058.3",
"protein_id": "NP_001018068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.537+5869A>C",
"hgvs_p": null,
"transcript": "ENST00000484212.5",
"protein_id": "ENSP00000417432.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.181-11508A>C",
"hgvs_p": null,
"transcript": "ENST00000393485.5",
"protein_id": "ENSP00000377125.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.537+5869A>C",
"hgvs_p": null,
"transcript": "XM_011515963.2",
"protein_id": "XP_011514265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
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"cds_length": 1314,
"cdna_start": null,
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"cdna_length": 6888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.537+5869A>C",
"hgvs_p": null,
"transcript": "XM_011515964.3",
"protein_id": "XP_011514266.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "TFEC",
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"hgvs_c": "c.537+5869A>C",
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"transcript": "XM_011515965.3",
"protein_id": "XP_011514267.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
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"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.537+5869A>C",
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"transcript": "XM_047420050.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.537+5869A>C",
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"transcript": "XM_047420051.1",
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},
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],
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "TFEC",
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"hgvs_c": "c.537+5869A>C",
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"transcript": "XM_011515969.2",
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},
{
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],
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"gene_symbol": "TFEC",
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"hgvs_c": "c.451-11508A>C",
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"transcript": "XM_011515970.2",
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "TFEC",
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"hgvs_c": "c.451-11508A>C",
"hgvs_p": null,
"transcript": "XM_047420053.1",
"protein_id": "XP_047276009.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "TFEC",
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"hgvs_c": "c.451-11508A>C",
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},
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],
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},
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],
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},
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"consequences": [
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],
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.451-11508A>C",
"hgvs_p": null,
"transcript": "XM_047420056.1",
"protein_id": "XP_047276012.1",
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TFEC",
"gene_hgnc_id": 11754,
"hgvs_c": "c.3+4569A>C",
"hgvs_p": null,
"transcript": "XM_017011876.3",
"protein_id": "XP_016867365.1",
"transcript_support_level": null,
"aa_start": null,
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},
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{
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{
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],
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"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.289,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000265440.12",
"gene_symbol": "TFEC",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}