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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: 13-37564557-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=37564557&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 37564557,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006475.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2435C>A",
"hgvs_p": "p.Thr812Lys",
"transcript": "NM_006475.3",
"protein_id": "NP_006466.2",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 836,
"cds_start": 2435,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379747.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006475.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2435C>A",
"hgvs_p": "p.Thr812Lys",
"transcript": "ENST00000379747.9",
"protein_id": "ENSP00000369071.4",
"transcript_support_level": 1,
"aa_start": 812,
"aa_end": null,
"aa_length": 836,
"cds_start": 2435,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006475.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379747.9"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2354C>A",
"hgvs_p": "p.Thr785Lys",
"transcript": "ENST00000379743.8",
"protein_id": "ENSP00000369067.4",
"transcript_support_level": 1,
"aa_start": 785,
"aa_end": null,
"aa_length": 809,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379743.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2270C>A",
"hgvs_p": "p.Thr757Lys",
"transcript": "ENST00000541179.5",
"protein_id": "ENSP00000437959.1",
"transcript_support_level": 1,
"aa_start": 757,
"aa_end": null,
"aa_length": 781,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541179.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2264C>A",
"hgvs_p": "p.Thr755Lys",
"transcript": "ENST00000379742.4",
"protein_id": "ENSP00000369066.4",
"transcript_support_level": 1,
"aa_start": 755,
"aa_end": null,
"aa_length": 779,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379742.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2174C>A",
"hgvs_p": "p.Thr725Lys",
"transcript": "ENST00000541481.5",
"protein_id": "ENSP00000437953.1",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 749,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541481.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2354C>A",
"hgvs_p": "p.Thr785Lys",
"transcript": "NM_001286665.2",
"protein_id": "NP_001273594.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 809,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286665.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2351C>A",
"hgvs_p": "p.Thr784Lys",
"transcript": "NM_001330517.2",
"protein_id": "NP_001317446.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 808,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330517.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2351C>A",
"hgvs_p": "p.Thr784Lys",
"transcript": "ENST00000379749.8",
"protein_id": "ENSP00000369073.4",
"transcript_support_level": 5,
"aa_start": 784,
"aa_end": null,
"aa_length": 808,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379749.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2345C>A",
"hgvs_p": "p.Thr782Lys",
"transcript": "NM_001424172.1",
"protein_id": "NP_001411101.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 806,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424172.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2345C>A",
"hgvs_p": "p.Thr782Lys",
"transcript": "ENST00000855910.1",
"protein_id": "ENSP00000525969.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 806,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855910.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2324C>A",
"hgvs_p": "p.Thr775Lys",
"transcript": "ENST00000855911.1",
"protein_id": "ENSP00000525970.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 799,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855911.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2324C>A",
"hgvs_p": "p.Thr775Lys",
"transcript": "ENST00000855913.1",
"protein_id": "ENSP00000525972.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 799,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855913.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2270C>A",
"hgvs_p": "p.Thr757Lys",
"transcript": "NM_001135935.2",
"protein_id": "NP_001129407.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 781,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135935.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2264C>A",
"hgvs_p": "p.Thr755Lys",
"transcript": "NM_001135934.2",
"protein_id": "NP_001129406.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 779,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135934.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2261C>A",
"hgvs_p": "p.Thr754Lys",
"transcript": "NM_001424173.1",
"protein_id": "NP_001411102.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 778,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424173.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2261C>A",
"hgvs_p": "p.Thr754Lys",
"transcript": "ENST00000855912.1",
"protein_id": "ENSP00000525971.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 778,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855912.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2255C>A",
"hgvs_p": "p.Thr752Lys",
"transcript": "ENST00000953168.1",
"protein_id": "ENSP00000623227.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 776,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953168.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2234C>A",
"hgvs_p": "p.Thr745Lys",
"transcript": "ENST00000855915.1",
"protein_id": "ENSP00000525974.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 769,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855915.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2189C>A",
"hgvs_p": "p.Thr730Lys",
"transcript": "ENST00000953169.1",
"protein_id": "ENSP00000623228.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 754,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953169.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2180C>A",
"hgvs_p": "p.Thr727Lys",
"transcript": "NM_001135936.2",
"protein_id": "NP_001129408.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 751,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135936.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.2180C>A",
"hgvs_p": "p.Thr727Lys",
"transcript": "ENST00000855908.1",
"protein_id": "ENSP00000525967.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 751,
"cds_start": 2180,
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"allele_count_reference_population": 0,
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"bayesdelnoaf_score": -0.13,
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{
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}