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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: 14-89984601-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89984601&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TDP1",
"hgnc_id": 18884,
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_018319.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.201,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8042169213294983,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_018319.4",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335725.9",
"protein_coding": true,
"protein_id": "NP_060789.2",
"strand": true,
"transcript": "NM_018319.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000335725.9",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018319.4",
"protein_coding": true,
"protein_id": "ENSP00000337353.4",
"strand": true,
"transcript": "ENST00000335725.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000393454.6",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377099.2",
"strand": true,
"transcript": "ENST00000393454.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 589,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1770,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000393452.7",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377098.3",
"strand": true,
"transcript": "ENST00000393452.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000545686.6",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "n.*236A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444587.2",
"strand": true,
"transcript": "ENST00000545686.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000545686.6",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "n.*236A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444587.2",
"strand": true,
"transcript": "ENST00000545686.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 675,
"aa_ref": "I",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935815.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1045A>T",
"hgvs_p": "p.Ile349Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605874.1",
"strand": true,
"transcript": "ENST00000935815.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 650,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1953,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894818.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564877.1",
"strand": true,
"transcript": "ENST00000894818.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 633,
"aa_ref": "I",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935816.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1045A>T",
"hgvs_p": "p.Ile349Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605875.1",
"strand": true,
"transcript": "ENST00000935816.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 615,
"aa_ref": "I",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1848,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000935818.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.991A>T",
"hgvs_p": "p.Ile331Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605877.1",
"strand": true,
"transcript": "ENST00000935818.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001008744.2",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008744.1",
"strand": true,
"transcript": "NM_001008744.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894814.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564873.1",
"strand": true,
"transcript": "ENST00000894814.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894815.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564874.1",
"strand": true,
"transcript": "ENST00000894815.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894816.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564875.1",
"strand": true,
"transcript": "ENST00000894816.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894817.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564876.1",
"strand": true,
"transcript": "ENST00000894817.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894819.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564878.1",
"strand": true,
"transcript": "ENST00000894819.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894820.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564879.1",
"strand": true,
"transcript": "ENST00000894820.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3615,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935812.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605871.1",
"strand": true,
"transcript": "ENST00000935812.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935813.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605872.1",
"strand": true,
"transcript": "ENST00000935813.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000935814.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Ile324Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605873.1",
"strand": true,
"transcript": "ENST00000935814.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 1827,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000935817.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
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]
}