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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: 7-138472645-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=138472645&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 138472645,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_015905.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "NM_015905.3",
"protein_id": "NP_056989.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1050,
"cds_start": null,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343526.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015905.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000343526.9",
"protein_id": "ENSP00000340507.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1050,
"cds_start": null,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015905.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343526.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000415680.6",
"protein_id": "ENSP00000390829.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1016,
"cds_start": null,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415680.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.754+11343A>C",
"hgvs_p": null,
"transcript": "ENST00000970296.1",
"protein_id": "ENSP00000640355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1211,
"cds_start": null,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.754+11343A>C",
"hgvs_p": null,
"transcript": "ENST00000921873.1",
"protein_id": "ENSP00000591932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1180,
"cds_start": null,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921873.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000883778.1",
"protein_id": "ENSP00000553837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": null,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000921875.1",
"protein_id": "ENSP00000591934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1080,
"cds_start": null,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000883783.1",
"protein_id": "ENSP00000553842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": null,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000883781.1",
"protein_id": "ENSP00000553840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": null,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000883777.1",
"protein_id": "ENSP00000553836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": null,
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"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883777.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.439+9810A>C",
"hgvs_p": null,
"transcript": "ENST00000921877.1",
"protein_id": "ENSP00000591936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1041,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000921877.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "TRIM24",
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"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "NM_003852.4",
"protein_id": "NP_003843.3",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_003852.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "TRIM24",
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"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000921874.1",
"protein_id": "ENSP00000591933.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000921874.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "TRIM24",
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"hgvs_c": "c.364+11733A>C",
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000921879.1",
"protein_id": "ENSP00000591938.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TRIM24",
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"hgvs_c": "c.364+11733A>C",
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"transcript": "ENST00000883779.1",
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"feature": "ENST00000883779.1"
},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000921878.1",
"protein_id": "ENSP00000591937.1",
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"biotype": "protein_coding",
"feature": "ENST00000921878.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000883782.1",
"protein_id": "ENSP00000553841.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.364+11733A>C",
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},
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "TRIM24",
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"hgvs_c": "c.364+11733A>C",
"hgvs_p": null,
"transcript": "ENST00000883780.1",
"protein_id": "ENSP00000553839.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "c.307+11343A>C",
"hgvs_p": null,
"transcript": "XM_024446981.2",
"protein_id": "XP_024302749.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446981.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"hgvs_c": "n.238+11343A>C",
"hgvs_p": null,
"transcript": "ENST00000497516.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497516.5"
}
],
"gene_symbol": "TRIM24",
"gene_hgnc_id": 11812,
"dbsnp": "rs1874326",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.456,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015905.3",
"gene_symbol": "TRIM24",
"hgnc_id": 11812,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.364+11733A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}