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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: 17-47975578-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47975578&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47975578,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001278197.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.578T>G",
"hgvs_p": "p.Ile193Ser",
"transcript": "NM_176096.3",
"protein_id": "NP_788276.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 506,
"cds_start": 578,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338399.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_176096.3"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.578T>G",
"hgvs_p": "p.Ile193Ser",
"transcript": "ENST00000338399.9",
"protein_id": "ENSP00000344683.4",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 506,
"cds_start": 578,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_176096.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338399.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "n.1308T>G",
"hgvs_p": null,
"transcript": "ENST00000580287.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000580287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "n.1331T>G",
"hgvs_p": null,
"transcript": "ENST00000584063.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000584063.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "n.1310T>G",
"hgvs_p": null,
"transcript": "ENST00000585163.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585163.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Ile218Ser",
"transcript": "NM_001278197.2",
"protein_id": "NP_001265126.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 531,
"cds_start": 653,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278197.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Ile218Ser",
"transcript": "ENST00000536708.6",
"protein_id": "ENSP00000438886.2",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 531,
"cds_start": 653,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536708.6"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.578T>G",
"hgvs_p": "p.Ile193Ser",
"transcript": "ENST00000894559.1",
"protein_id": "ENSP00000564618.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 503,
"cds_start": 578,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894559.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.569T>G",
"hgvs_p": "p.Ile190Ser",
"transcript": "ENST00000894560.1",
"protein_id": "ENSP00000564619.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 503,
"cds_start": 569,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894560.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.578T>G",
"hgvs_p": "p.Ile193Ser",
"transcript": "ENST00000930755.1",
"protein_id": "ENSP00000600814.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 479,
"cds_start": 578,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930755.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.317T>G",
"hgvs_p": "p.Ile106Ser",
"transcript": "NM_001278217.2",
"protein_id": "NP_001265146.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 419,
"cds_start": 317,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278217.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.578T>G",
"hgvs_p": "p.Ile193Ser",
"transcript": "ENST00000579175.5",
"protein_id": "ENSP00000463950.1",
"transcript_support_level": 3,
"aa_start": 193,
"aa_end": null,
"aa_length": 280,
"cds_start": 578,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579175.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.299T>G",
"hgvs_p": "p.Ile100Ser",
"transcript": "ENST00000583352.5",
"protein_id": "ENSP00000463431.1",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 122,
"cds_start": 299,
"cds_end": null,
"cds_length": 371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583352.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Ile218Ser",
"transcript": "XM_011525297.1",
"protein_id": "XP_011523599.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 531,
"cds_start": 653,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525297.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.299T>G",
"hgvs_p": "p.Ile100Ser",
"transcript": "XM_017025166.3",
"protein_id": "XP_016880655.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 413,
"cds_start": 299,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025166.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.-313T>G",
"hgvs_p": null,
"transcript": "NM_001278198.2",
"protein_id": "NP_001265127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": null,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278198.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "c.-313T>G",
"hgvs_p": null,
"transcript": "NM_001278216.2",
"protein_id": "NP_001265145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278216.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "n.778T>G",
"hgvs_p": null,
"transcript": "ENST00000578134.5",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000578134.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "n.*264T>G",
"hgvs_p": null,
"transcript": "ENST00000580391.5",
"protein_id": "ENSP00000463878.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000580391.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "n.*264T>G",
"hgvs_p": null,
"transcript": "ENST00000580670.6",
"protein_id": "ENSP00000463442.2",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000580670.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "n.1286T>G",
"hgvs_p": null,
"transcript": "ENST00000584168.5",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000584168.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP3",
"gene_hgnc_id": 18673,
"hgvs_c": "n.*264T>G",
"hgvs_p": null,
"transcript": "ENST00000584991.5",
"protein_id": "ENSP00000462012.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}