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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: 16-724116-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=724116&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 724116,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000345165.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348Gln",
"transcript": "NM_001378030.1",
"protein_id": "NP_001364959.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 470,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "ENST00000345165.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348Gln",
"transcript": "ENST00000345165.10",
"protein_id": "ENSP00000316851.5",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 470,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "NM_001378030.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348Gln",
"transcript": "ENST00000293889.10",
"protein_id": "ENSP00000293889.6",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 438,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348Gln",
"transcript": "NM_001031737.3",
"protein_id": "NP_001026907.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 438,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"transcript": "NM_001378033.1",
"protein_id": "NP_001364962.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 281,
"cds_start": 476,
"cds_end": null,
"cds_length": 846,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497Gln",
"transcript": "XM_011522356.2",
"protein_id": "XP_011520658.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 643,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Arg493Gln",
"transcript": "XM_011522357.2",
"protein_id": "XP_011520659.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 639,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497Gln",
"transcript": "XM_011522358.3",
"protein_id": "XP_011520660.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 635,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "XM_011522359.2",
"protein_id": "XP_011520661.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 632,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"transcript": "XM_011522360.2",
"protein_id": "XP_011520662.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 628,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497Gln",
"transcript": "XM_011522361.2",
"protein_id": "XP_011520663.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 619,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497Gln",
"transcript": "XM_017022929.2",
"protein_id": "XP_016878418.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 611,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497Gln",
"transcript": "XM_011522362.2",
"protein_id": "XP_011520664.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 600,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497Gln",
"transcript": "XM_011522363.2",
"protein_id": "XP_011520665.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 587,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497Gln",
"transcript": "XM_011522364.2",
"protein_id": "XP_011520666.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 579,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426Gln",
"transcript": "XM_011522365.2",
"protein_id": "XP_011520667.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 572,
"cds_start": 1277,
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"cds_length": 1719,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"transcript": "XM_011522366.2",
"protein_id": "XP_011520668.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 569,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "XM_006720838.2",
"protein_id": "XP_006720901.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 568,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "XM_047433602.1",
"protein_id": "XP_047289558.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
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"cds_start": 1265,
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"cdna_start": 1341,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370Gln",
"transcript": "XM_011522367.2",
"protein_id": "XP_011520669.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 516,
"cds_start": 1109,
"cds_end": null,
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"cdna_start": 1185,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366Gln",
"transcript": "XM_011522368.2",
"protein_id": "XP_011520670.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 512,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Gln",
"transcript": "XM_011522369.2",
"protein_id": "XP_011520671.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 498,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1043G>A",
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"phenotype_combined": "Congenital myopathy with internal nuclei and atypical cores|not provided|CCDC78-related disorder",
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}
],
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}