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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: 1-1184478-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1184478&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1184478,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000379289.6",
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1260+387C>T",
"hgvs_p": null,
"transcript": "NM_001130045.2",
"protein_id": "NP_001123517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": "ENST00000379289.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1260+387C>T",
"hgvs_p": null,
"transcript": "ENST00000379289.6",
"protein_id": "ENSP00000368591.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": "NM_001130045.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1260+387C>T",
"hgvs_p": null,
"transcript": "ENST00000379290.6",
"protein_id": "ENSP00000368592.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1041+387C>T",
"hgvs_p": null,
"transcript": "ENST00000379288.3",
"protein_id": "ENSP00000368590.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": -4,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1260+387C>T",
"hgvs_p": null,
"transcript": "NM_001371649.1",
"protein_id": "NP_001358578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1041+387C>T",
"hgvs_p": null,
"transcript": "NM_153254.3",
"protein_id": "NP_694986.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": -4,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1638+387C>T",
"hgvs_p": null,
"transcript": "XM_047416841.1",
"protein_id": "XP_047272797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1638+387C>T",
"hgvs_p": null,
"transcript": "XM_047416843.1",
"protein_id": "XP_047272799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1557+387C>T",
"hgvs_p": null,
"transcript": "XM_017000906.2",
"protein_id": "XP_016856395.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1548+387C>T",
"hgvs_p": null,
"transcript": "XM_047416842.1",
"protein_id": "XP_047272798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1260+387C>T",
"hgvs_p": null,
"transcript": "XM_017000912.2",
"protein_id": "XP_016856401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
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"cds_length": 2022,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1260+387C>T",
"hgvs_p": null,
"transcript": "XM_047416870.1",
"protein_id": "XP_047272826.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 673,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1638+387C>T",
"hgvs_p": null,
"transcript": "XM_017000907.2",
"protein_id": "XP_016856396.2",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 1932,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1638+387C>T",
"hgvs_p": null,
"transcript": "XM_017000908.2",
"protein_id": "XP_016856397.2",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1638+387C>T",
"hgvs_p": null,
"transcript": "XM_017000909.2",
"protein_id": "XP_016856398.2",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1638+387C>T",
"hgvs_p": null,
"transcript": "XM_017000910.3",
"protein_id": "XP_016856399.2",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
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"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1041+387C>T",
"hgvs_p": null,
"transcript": "XM_005244738.2",
"protein_id": "XP_005244795.1",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"hgvs_c": "c.1638+387C>T",
"hgvs_p": null,
"transcript": "XM_047416882.1",
"protein_id": "XP_047272838.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1935,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "TTLL10",
"gene_hgnc_id": 26693,
"dbsnp": "rs1320565",
"frequency_reference_population": 0.25446048,
"hom_count_reference_population": 9350,
"allele_count_reference_population": 38707,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.25446,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 38707,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 9350,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.249,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379289.6",
"gene_symbol": "TTLL10",
"hgnc_id": 26693,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1260+387C>T",
"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
}