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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: 9-120402984-G-GAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=120402984&ref=G&alt=GAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 120402984,
"ref": "G",
"alt": "GAC",
"effect": "frameshift_variant",
"transcript": "ENST00000349780.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5127_5128dupGT",
"hgvs_p": "p.Ser1710fs",
"transcript": "NM_018249.6",
"protein_id": "NP_060719.4",
"transcript_support_level": null,
"aa_start": 1710,
"aa_end": null,
"aa_length": 1893,
"cds_start": 5128,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 5317,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": "ENST00000349780.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5127_5128dupGT",
"hgvs_p": "p.Ser1710fs",
"transcript": "ENST00000349780.9",
"protein_id": "ENSP00000343818.4",
"transcript_support_level": 1,
"aa_start": 1710,
"aa_end": null,
"aa_length": 1893,
"cds_start": 5128,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 5317,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": "NM_018249.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4890_4891dupGT",
"hgvs_p": "p.Ser1631fs",
"transcript": "ENST00000360190.8",
"protein_id": "ENSP00000353317.4",
"transcript_support_level": 1,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1814,
"cds_start": 4891,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 5071,
"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": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3951_*3952dupGT",
"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": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*2954_*2955dupGT",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3951_*3952dupGT",
"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": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*2954_*2955dupGT",
"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": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5124_5125dupGT",
"hgvs_p": "p.Ser1709fs",
"transcript": "NM_001410994.1",
"protein_id": "NP_001397923.1",
"transcript_support_level": null,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1892,
"cds_start": 5125,
"cds_end": null,
"cds_length": 5679,
"cdna_start": 5314,
"cdna_end": null,
"cdna_length": 6229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5124_5125dupGT",
"hgvs_p": "p.Ser1709fs",
"transcript": "ENST00000687279.1",
"protein_id": "ENSP00000508692.1",
"transcript_support_level": null,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1892,
"cds_start": 5125,
"cds_end": null,
"cds_length": 5679,
"cdna_start": 5170,
"cdna_end": null,
"cdna_length": 6079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5031_5032dupGT",
"hgvs_p": "p.Ser1678fs",
"transcript": "ENST00000693728.1",
"protein_id": "ENSP00000510580.1",
"transcript_support_level": null,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1867,
"cds_start": 5032,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 5075,
"cdna_end": null,
"cdna_length": 6071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5031_5032dupGT",
"hgvs_p": "p.Ser1678fs",
"transcript": "NM_001410993.1",
"protein_id": "NP_001397922.1",
"transcript_support_level": null,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5032,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5221,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5031_5032dupGT",
"hgvs_p": "p.Ser1678fs",
"transcript": "ENST00000416449.6",
"protein_id": "ENSP00000400395.2",
"transcript_support_level": 5,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5032,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5075,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5028_5029dupGT",
"hgvs_p": "p.Ser1677fs",
"transcript": "NM_001410992.1",
"protein_id": "NP_001397921.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1860,
"cds_start": 5029,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 5218,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5028_5029dupGT",
"hgvs_p": "p.Ser1677fs",
"transcript": "ENST00000687633.1",
"protein_id": "ENSP00000510289.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1860,
"cds_start": 5029,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 5029,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4953_4954dupGT",
"hgvs_p": "p.Ser1652fs",
"transcript": "ENST00000690646.1",
"protein_id": "ENSP00000510383.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1835,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5508,
"cdna_start": 4954,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4890_4891dupGT",
"hgvs_p": "p.Ser1631fs",
"transcript": "NM_001011649.3",
"protein_id": "NP_001011649.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1814,
"cds_start": 4891,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 5080,
"cdna_end": null,
"cdna_length": 5995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4437_4438dupGT",
"hgvs_p": "p.Ser1480fs",
"transcript": "NM_001272039.2",
"protein_id": "NP_001258968.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1663,
"cds_start": 4438,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 4627,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4437_4438dupGT",
"hgvs_p": "p.Ser1480fs",
"transcript": "ENST00000360822.8",
"protein_id": "ENSP00000354065.4",
"transcript_support_level": 5,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1663,
"cds_start": 4438,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 4619,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.2157_2158dupGT",
"hgvs_p": "p.Ser720fs",
"transcript": "ENST00000425647.1",
"protein_id": "ENSP00000409941.1",
"transcript_support_level": 2,
"aa_start": 720,
"aa_end": null,
"aa_length": 903,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.735_736dupGT",
"hgvs_p": "p.Ser246fs",
"transcript": "ENST00000688512.1",
"protein_id": "ENSP00000508546.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 429,
"cds_start": 736,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4887_4888dupGT",
"hgvs_p": "p.Ser1630fs",
"transcript": "XM_047423587.1",
"protein_id": "XP_047279543.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 1813,
"cds_start": 4888,
"cds_end": null,
"cds_length": 5442,
"cdna_start": 5077,
"cdna_end": null,
"cdna_length": 5992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4794_4795dupGT",
"hgvs_p": "p.Ser1599fs",
"transcript": "XM_047423588.1",
"protein_id": "XP_047279544.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4795,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 5899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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{
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"PM2",
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],
"verdict": "Pathogenic",
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{
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],
"verdict": "Uncertain_significance",
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}
],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Microcephaly 3, primary, autosomal recessive",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}