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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: 17-39531258-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39531258&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39531258,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000447079.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4415A>G",
"hgvs_p": "p.Tyr1472Cys",
"transcript": "NM_016507.4",
"protein_id": "NP_057591.2",
"transcript_support_level": null,
"aa_start": 1472,
"aa_end": null,
"aa_length": 1490,
"cds_start": 4415,
"cds_end": null,
"cds_length": 4473,
"cdna_start": 5001,
"cdna_end": null,
"cdna_length": 8287,
"mane_select": "ENST00000447079.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4415A>G",
"hgvs_p": "p.Tyr1472Cys",
"transcript": "ENST00000447079.6",
"protein_id": "ENSP00000398880.4",
"transcript_support_level": 1,
"aa_start": 1472,
"aa_end": null,
"aa_length": 1490,
"cds_start": 4415,
"cds_end": null,
"cds_length": 4473,
"cdna_start": 5001,
"cdna_end": null,
"cdna_length": 8287,
"mane_select": "NM_016507.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4388A>G",
"hgvs_p": "p.Tyr1463Cys",
"transcript": "ENST00000430627.6",
"protein_id": "ENSP00000407720.2",
"transcript_support_level": 1,
"aa_start": 1463,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4388,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4699,
"cdna_end": null,
"cdna_length": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4388A>G",
"hgvs_p": "p.Tyr1463Cys",
"transcript": "NM_015083.4",
"protein_id": "NP_055898.1",
"transcript_support_level": null,
"aa_start": 1463,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4388,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4974,
"cdna_end": null,
"cdna_length": 8260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4412A>G",
"hgvs_p": "p.Tyr1471Cys",
"transcript": "XM_005257456.5",
"protein_id": "XP_005257513.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1489,
"cds_start": 4412,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 4998,
"cdna_end": null,
"cdna_length": 8284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4385A>G",
"hgvs_p": "p.Tyr1462Cys",
"transcript": "XM_047436253.1",
"protein_id": "XP_047292209.1",
"transcript_support_level": null,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1480,
"cds_start": 4385,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 4971,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "n.1377A>G",
"hgvs_p": null,
"transcript": "ENST00000584336.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "n.3760+4942A>G",
"hgvs_p": null,
"transcript": "ENST00000559663.2",
"protein_id": "ENSP00000453329.2",
"transcript_support_level": 5,
"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": 6018,
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_011524893.3",
"protein_id": "XP_011523195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6241,
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_011524894.3",
"protein_id": "XP_011523196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6191,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_011524895.3",
"protein_id": "XP_011523197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6436,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_011524897.3",
"protein_id": "XP_011523199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6289,
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_011524898.3",
"protein_id": "XP_011523200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6224,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_011524906.3",
"protein_id": "XP_011523208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8581,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_047436255.1",
"protein_id": "XP_047292211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6239,
"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": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_047436256.1",
"protein_id": "XP_047292212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
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"cdna_length": 8696,
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_047436257.1",
"protein_id": "XP_047292213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6174,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_047436258.1",
"protein_id": "XP_047292214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8631,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_047436259.1",
"protein_id": "XP_047292215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6419,
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_047436260.1",
"protein_id": "XP_047292216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8598,
"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": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4178+237A>G",
"hgvs_p": null,
"transcript": "XM_047436261.1",
"protein_id": "XP_047292217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 8646,
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4175+237A>G",
"hgvs_p": null,
"transcript": "XM_047436262.1",
"protein_id": "XP_047292218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1392,
"cds_start": -4,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6188,
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDK12",
"gene_hgnc_id": 24224,
"hgvs_c": "c.4175+237A>G",
"hgvs_p": null,
"transcript": "XM_047436263.1",
"protein_id": "XP_047292219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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],
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}