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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: 9-105635056-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=105635056&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 105635056,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000357998.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "NM_001079802.2",
"protein_id": "NP_001073270.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 461,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 7455,
"mane_select": "ENST00000357998.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "ENST00000357998.10",
"protein_id": "ENSP00000350687.6",
"transcript_support_level": 5,
"aa_start": 393,
"aa_end": null,
"aa_length": 461,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 7455,
"mane_select": "NM_001079802.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "ENST00000223528.6",
"protein_id": "ENSP00000223528.2",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 461,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 7364,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*1216T>C",
"hgvs_p": null,
"transcript": "ENST00000602526.1",
"protein_id": "ENSP00000473347.1",
"transcript_support_level": 1,
"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": 7036,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*786T>C",
"hgvs_p": null,
"transcript": "ENST00000602661.6",
"protein_id": "ENSP00000473540.2",
"transcript_support_level": 1,
"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": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*1216T>C",
"hgvs_p": null,
"transcript": "ENST00000602526.1",
"protein_id": "ENSP00000473347.1",
"transcript_support_level": 1,
"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": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*786T>C",
"hgvs_p": null,
"transcript": "ENST00000602661.6",
"protein_id": "ENSP00000473540.2",
"transcript_support_level": 1,
"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": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "NM_001351496.2",
"protein_id": "NP_001338425.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 461,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 7590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "NM_006731.2",
"protein_id": "NP_006722.2",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 461,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 7364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "ENST00000676310.1",
"protein_id": "ENSP00000501585.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 450,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "ENST00000674633.1",
"protein_id": "ENSP00000502164.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 448,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1109T>C",
"hgvs_p": "p.Leu370Pro",
"transcript": "NM_001351497.2",
"protein_id": "NP_001338426.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 438,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 7688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "NM_001198963.2",
"protein_id": "NP_001185892.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 430,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "ENST00000448551.6",
"protein_id": "ENSP00000399140.2",
"transcript_support_level": 2,
"aa_start": 393,
"aa_end": null,
"aa_length": 430,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.782T>C",
"hgvs_p": "p.Leu261Pro",
"transcript": "NM_001351499.2",
"protein_id": "NP_001338428.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 329,
"cds_start": 782,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.782T>C",
"hgvs_p": "p.Leu261Pro",
"transcript": "NM_001351500.2",
"protein_id": "NP_001338429.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 329,
"cds_start": 782,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.782T>C",
"hgvs_p": "p.Leu261Pro",
"transcript": "NM_001351501.2",
"protein_id": "NP_001338430.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 329,
"cds_start": 782,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 7481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.782T>C",
"hgvs_p": "p.Leu261Pro",
"transcript": "NM_001351502.2",
"protein_id": "NP_001338431.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 329,
"cds_start": 782,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 7801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Leu89Pro",
"transcript": "ENST00000457847.1",
"protein_id": "ENSP00000414114.1",
"transcript_support_level": 3,
"aa_start": 89,
"aa_end": null,
"aa_length": 159,
"cds_start": 266,
"cds_end": null,
"cds_length": 480,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1381T>C",
"hgvs_p": "p.Cys461Arg",
"transcript": "XM_047422971.1",
"protein_id": "XP_047278927.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 472,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 7806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1381T>C",
"hgvs_p": "p.Cys461Arg",
"transcript": "XM_047422972.1",
"protein_id": "XP_047278928.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 472,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "XM_047422973.1",
"protein_id": "XP_047278929.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 461,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 7701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1178T>C",
"hgvs_p": "p.Leu393Pro",
"transcript": "XM_047422974.1",
"protein_id": "XP_047278930.1",
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"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}