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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: 9-120399457-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=120399457&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 120399457,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_018249.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5451+1285T>A",
"hgvs_p": null,
"transcript": "NM_018249.6",
"protein_id": "NP_060719.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1893,
"cds_start": null,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349780.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018249.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5451+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000349780.9",
"protein_id": "ENSP00000343818.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1893,
"cds_start": null,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018249.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349780.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5214+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000360190.8",
"protein_id": "ENSP00000353317.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1814,
"cds_start": null,
"cds_end": null,
"cds_length": 5445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360190.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*4275+1285T>A",
"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": 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": "ENST00000473282.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3278+1285T>A",
"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": 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": "ENST00000480112.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5448+1285T>A",
"hgvs_p": null,
"transcript": "NM_001410994.1",
"protein_id": "NP_001397923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1892,
"cds_start": null,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410994.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5448+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000687279.1",
"protein_id": "ENSP00000508692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1892,
"cds_start": null,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5355+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000693728.1",
"protein_id": "ENSP00000510580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1867,
"cds_start": null,
"cds_end": null,
"cds_length": 5604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5373+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000963700.1",
"protein_id": "ENSP00000633759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1867,
"cds_start": null,
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"cds_length": 5604,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5355+1285T>A",
"hgvs_p": null,
"transcript": "NM_001410993.1",
"protein_id": "NP_001397922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1861,
"cds_start": null,
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"cds_length": 5586,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410993.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5355+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000416449.6",
"protein_id": "ENSP00000400395.2",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5352+1285T>A",
"hgvs_p": null,
"transcript": "NM_001410992.1",
"protein_id": "NP_001397921.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001410992.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
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"hgvs_c": "c.5352+1285T>A",
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"transcript": "ENST00000687633.1",
"protein_id": "ENSP00000510289.1",
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"cds_start": null,
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"biotype": "protein_coding",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CDK5RAP2",
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"biotype": "protein_coding",
"feature": "ENST00000690646.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5214+1285T>A",
"hgvs_p": null,
"transcript": "NM_001011649.3",
"protein_id": "NP_001011649.1",
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"feature": "NM_001011649.3"
},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 34,
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"gene_symbol": "CDK5RAP2",
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"biotype": "protein_coding",
"feature": "ENST00000862947.1"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5211+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000862948.1",
"protein_id": "ENSP00000533007.1",
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"feature": "ENST00000862948.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.5118+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000862949.1",
"protein_id": "ENSP00000533008.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "CDK5RAP2",
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"hgvs_c": "c.4761+1285T>A",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CDK5RAP2",
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"hgvs_c": "c.4761+1285T>A",
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"transcript": "ENST00000360822.8",
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"feature": "ENST00000360822.8"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.2481+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000425647.1",
"protein_id": "ENSP00000409941.1",
"transcript_support_level": 2,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425647.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.1059+1285T>A",
"hgvs_p": null,
"transcript": "ENST00000688512.1",
"protein_id": "ENSP00000508546.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000688512.1"
},
{
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{
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}
],
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}