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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: 9-120409290-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=120409290&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 120409290,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000349780.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4441C>T",
"hgvs_p": "p.Arg1481*",
"transcript": "NM_018249.6",
"protein_id": "NP_060719.4",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1893,
"cds_start": 4441,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4630,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": "ENST00000349780.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4441C>T",
"hgvs_p": "p.Arg1481*",
"transcript": "ENST00000349780.9",
"protein_id": "ENSP00000343818.4",
"transcript_support_level": 1,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1893,
"cds_start": 4441,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4630,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": "NM_018249.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4441C>T",
"hgvs_p": "p.Arg1481*",
"transcript": "ENST00000360190.8",
"protein_id": "ENSP00000353317.4",
"transcript_support_level": 1,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1814,
"cds_start": 4441,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 4621,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3265C>T",
"hgvs_p": null,
"transcript": "ENST00000473282.6",
"protein_id": "ENSP00000419265.1",
"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": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*2268C>T",
"hgvs_p": null,
"transcript": "ENST00000480112.5",
"protein_id": "ENSP00000418418.1",
"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": 5826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.3749C>T",
"hgvs_p": null,
"transcript": "ENST00000483412.5",
"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": 6235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3265C>T",
"hgvs_p": null,
"transcript": "ENST00000473282.6",
"protein_id": "ENSP00000419265.1",
"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": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*2268C>T",
"hgvs_p": null,
"transcript": "ENST00000480112.5",
"protein_id": "ENSP00000418418.1",
"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": 5826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4438C>T",
"hgvs_p": "p.Arg1480*",
"transcript": "NM_001410994.1",
"protein_id": "NP_001397923.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1892,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5679,
"cdna_start": 4627,
"cdna_end": null,
"cdna_length": 6229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4438C>T",
"hgvs_p": "p.Arg1480*",
"transcript": "ENST00000687279.1",
"protein_id": "ENSP00000508692.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1892,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5679,
"cdna_start": 4483,
"cdna_end": null,
"cdna_length": 6079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4345C>T",
"hgvs_p": "p.Arg1449*",
"transcript": "ENST00000693728.1",
"protein_id": "ENSP00000510580.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1867,
"cds_start": 4345,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 4388,
"cdna_end": null,
"cdna_length": 6071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4345C>T",
"hgvs_p": "p.Arg1449*",
"transcript": "NM_001410993.1",
"protein_id": "NP_001397922.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1861,
"cds_start": 4345,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 4534,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4345C>T",
"hgvs_p": "p.Arg1449*",
"transcript": "ENST00000416449.6",
"protein_id": "ENSP00000400395.2",
"transcript_support_level": 5,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1861,
"cds_start": 4345,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 4388,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4342C>T",
"hgvs_p": "p.Arg1448*",
"transcript": "NM_001410992.1",
"protein_id": "NP_001397921.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1860,
"cds_start": 4342,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 4531,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4342C>T",
"hgvs_p": "p.Arg1448*",
"transcript": "ENST00000687633.1",
"protein_id": "ENSP00000510289.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1860,
"cds_start": 4342,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 4342,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4345C>T",
"hgvs_p": "p.Arg1449*",
"transcript": "ENST00000690646.1",
"protein_id": "ENSP00000510383.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1835,
"cds_start": 4345,
"cds_end": null,
"cds_length": 5508,
"cdna_start": 4345,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4441C>T",
"hgvs_p": "p.Arg1481*",
"transcript": "NM_001011649.3",
"protein_id": "NP_001011649.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1814,
"cds_start": 4441,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 4630,
"cdna_end": null,
"cdna_length": 5995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.3751C>T",
"hgvs_p": "p.Arg1251*",
"transcript": "NM_001272039.2",
"protein_id": "NP_001258968.1",
"transcript_support_level": null,
"aa_start": 1251,
"aa_end": null,
"aa_length": 1663,
"cds_start": 3751,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.3751C>T",
"hgvs_p": "p.Arg1251*",
"transcript": "ENST00000360822.8",
"protein_id": "ENSP00000354065.4",
"transcript_support_level": 5,
"aa_start": 1251,
"aa_end": null,
"aa_length": 1663,
"cds_start": 3751,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 3932,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.1471C>T",
"hgvs_p": "p.Arg491*",
"transcript": "ENST00000425647.1",
"protein_id": "ENSP00000409941.1",
"transcript_support_level": 2,
"aa_start": 491,
"aa_end": null,
"aa_length": 903,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17*",
"transcript": "ENST00000688512.1",
"protein_id": "ENSP00000508546.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 429,
"cds_start": 49,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4438C>T",
"hgvs_p": "p.Arg1480*",
"transcript": "XM_047423587.1",
"protein_id": "XP_047279543.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1813,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5442,
"cdna_start": 4627,
"cdna_end": null,
"cdna_length": 5992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
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],
"gene_symbol": "CDK5RAP2",
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"dbsnp": "rs587783390",
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"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"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,
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"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.643,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000349780.9",
"gene_symbol": "CDK5RAP2",
"hgnc_id": 18672,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4441C>T",
"hgvs_p": "p.Arg1481*"
},
{
"score": 14,
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"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000776055.1",
"gene_symbol": "ENSG00000301087",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.414-5568G>A",
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}
],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 3,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "Microcephaly 3, primary, autosomal recessive|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}