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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: 5-141978647-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141978647&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141978647,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000394520.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "NM_004290.5",
"protein_id": "NP_004281.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": "ENST00000394520.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "ENST00000394520.7",
"protein_id": "ENSP00000378028.2",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": "NM_004290.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "ENST00000356143.5",
"protein_id": "ENSP00000348462.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "ENST00000394519.5",
"protein_id": "ENSP00000378027.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "NM_001201365.2",
"protein_id": "NP_001188294.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "NM_183399.3",
"protein_id": "NP_899646.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "NM_183400.3",
"protein_id": "NP_899647.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "NM_183401.3",
"protein_id": "NP_899648.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "ENST00000347642.7",
"protein_id": "ENSP00000324956.3",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.273G>C",
"hgvs_p": "p.Leu91Phe",
"transcript": "NM_183398.3",
"protein_id": "NP_899645.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 348,
"cds_start": 273,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.273G>C",
"hgvs_p": "p.Leu91Phe",
"transcript": "ENST00000394514.6",
"protein_id": "ENSP00000378022.2",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 348,
"cds_start": 273,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "ENST00000511961.5",
"protein_id": "ENSP00000423420.1",
"transcript_support_level": 3,
"aa_start": 217,
"aa_end": null,
"aa_length": 277,
"cds_start": 651,
"cds_end": null,
"cds_length": 834,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "XM_011537714.4",
"protein_id": "XP_011536016.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "XM_047417898.1",
"protein_id": "XP_047273854.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "XM_047417899.1",
"protein_id": "XP_047273855.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "XM_047417900.1",
"protein_id": "XP_047273856.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "XM_047417901.1",
"protein_id": "XP_047273857.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "XM_047417902.1",
"protein_id": "XP_047273858.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "XM_047417903.1",
"protein_id": "XP_047273859.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "XM_047417904.1",
"protein_id": "XP_047273860.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Leu217Phe",
"transcript": "XM_047417905.1",
"protein_id": "XP_047273861.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 474,
"cds_start": 651,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 4249,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "n.569G>C",
"hgvs_p": null,
"transcript": "ENST00000502341.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 684,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RNF14",
"gene_hgnc_id": 10058,
"hgvs_c": "c.155-4733G>C",
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{
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],
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"phenotype_combined": "not specified",
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}
],
"message": null
}