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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: 8-93728215-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=93728215&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 93728215,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145269.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.788G>T",
"hgvs_p": "p.Cys263Phe",
"transcript": "NM_145269.5",
"protein_id": "NP_660312.2",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 289,
"cds_start": 788,
"cds_end": null,
"cds_length": 870,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": "ENST00000518322.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145269.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.788G>T",
"hgvs_p": "p.Cys263Phe",
"transcript": "ENST00000518322.6",
"protein_id": "ENSP00000429367.1",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 289,
"cds_start": 788,
"cds_end": null,
"cds_length": 870,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": "NM_145269.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518322.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "NM_001377960.1",
"protein_id": "NP_001364889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8530,
"mane_select": "ENST00000520560.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377960.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "ENST00000520560.6",
"protein_id": "ENSP00000429807.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8530,
"mane_select": "NM_001377960.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520560.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "ENST00000517700.6",
"protein_id": "ENSP00000427729.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517700.6"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Cys255Phe",
"transcript": "ENST00000933184.1",
"protein_id": "ENSP00000603243.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 281,
"cds_start": 764,
"cds_end": null,
"cds_length": 846,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933184.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.674G>T",
"hgvs_p": "p.Cys225Phe",
"transcript": "NM_001283034.2",
"protein_id": "NP_001269963.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 251,
"cds_start": 674,
"cds_end": null,
"cds_length": 756,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283034.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.674G>T",
"hgvs_p": "p.Cys225Phe",
"transcript": "ENST00000423990.6",
"protein_id": "ENSP00000401774.2",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 251,
"cds_start": 674,
"cds_end": null,
"cds_length": 756,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423990.6"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Cys192Phe",
"transcript": "ENST00000949630.1",
"protein_id": "ENSP00000619689.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 218,
"cds_start": 575,
"cds_end": null,
"cds_length": 657,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949630.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.566G>T",
"hgvs_p": "p.Cys189Phe",
"transcript": "ENST00000933183.1",
"protein_id": "ENSP00000603242.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 215,
"cds_start": 566,
"cds_end": null,
"cds_length": 648,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933183.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.323G>T",
"hgvs_p": "p.Cys108Phe",
"transcript": "ENST00000517718.5",
"protein_id": "ENSP00000428874.1",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 134,
"cds_start": 323,
"cds_end": null,
"cds_length": 405,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517718.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.323G>T",
"hgvs_p": "p.Cys108Phe",
"transcript": "ENST00000521641.5",
"protein_id": "ENSP00000428751.1",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 134,
"cds_start": 323,
"cds_end": null,
"cds_length": 405,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521641.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "NM_001377961.1",
"protein_id": "NP_001364890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377961.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "NM_001377962.1",
"protein_id": "NP_001364891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377962.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "NM_001377963.1",
"protein_id": "NP_001364892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "NM_001377964.1",
"protein_id": "NP_001364893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377964.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "NM_203390.4",
"protein_id": "NP_976324.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203390.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "ENST00000399300.7",
"protein_id": "ENSP00000382239.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399300.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "ENST00000518597.2",
"protein_id": "ENSP00000428269.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518597.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "ENST00000519109.6",
"protein_id": "ENSP00000430474.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519109.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "XM_011517029.3",
"protein_id": "XP_011515331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517029.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM12B",
"gene_hgnc_id": 32310,
"hgvs_c": "c.*5190C>A",
"hgvs_p": null,
"transcript": "XM_017013408.3",
"protein_id": "XP_016868897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8480,
"mane_select": null,
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{
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{
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],
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}