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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: 16-50749906-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=50749906&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 50749906,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015247.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001378743.1",
"protein_id": "NP_001365672.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 956,
"cds_start": 208,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 8540,
"mane_select": "ENST00000427738.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378743.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000427738.8",
"protein_id": "ENSP00000392025.3",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 956,
"cds_start": 208,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 8540,
"mane_select": "NM_001378743.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427738.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000398568.6",
"protein_id": "ENSP00000381574.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398568.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000569418.5",
"protein_id": "ENSP00000457576.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569418.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000566206.5",
"protein_id": "ENSP00000462134.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 910,
"cds_start": 208,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566206.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "n.603A>G",
"hgvs_p": null,
"transcript": "ENST00000569891.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000569891.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000872847.1",
"protein_id": "ENSP00000542906.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 967,
"cds_start": 208,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872847.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000967680.1",
"protein_id": "ENSP00000637739.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 967,
"cds_start": 208,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967680.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000872838.1",
"protein_id": "ENSP00000542897.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 957,
"cds_start": 208,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872838.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_015247.3",
"protein_id": "NP_056062.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 956,
"cds_start": 208,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 8677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015247.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000311559.13",
"protein_id": "ENSP00000308928.9",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 956,
"cds_start": 208,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 5371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311559.13"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001042355.2",
"protein_id": "NP_001035814.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042355.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001042412.3",
"protein_id": "NP_001035877.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 8553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042412.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001378744.1",
"protein_id": "NP_001365673.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 8558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378744.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001378745.1",
"protein_id": "NP_001365674.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 8668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378745.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001378746.1",
"protein_id": "NP_001365675.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 8690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378746.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001378747.1",
"protein_id": "NP_001365676.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 8480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378747.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001378748.1",
"protein_id": "NP_001365677.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 8740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378748.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001378749.1",
"protein_id": "NP_001365678.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 8458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378749.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "NM_001378750.1",
"protein_id": "NP_001365679.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 8877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378750.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000564326.5",
"protein_id": "ENSP00000454515.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 3259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564326.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000872836.1",
"protein_id": "ENSP00000542895.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 953,
"cds_start": 208,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.359,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"BS2"
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"verdict": "Likely_benign",
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"inheritance_mode": "AD",
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],
"clinvar_disease": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 8,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 8|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}