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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: 16-722948-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=722948&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 722948,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001031737.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "ENST00000293889.10",
"protein_id": "ENSP00000293889.6",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 438,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293889.10"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "NM_001378030.1",
"protein_id": "NP_001364959.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 470,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345165.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378030.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "ENST00000345165.10",
"protein_id": "ENSP00000316851.5",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 470,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378030.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345165.10"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "NM_001031737.3",
"protein_id": "NP_001026907.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 438,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031737.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573Lys",
"transcript": "XM_011522362.2",
"protein_id": "XP_011520664.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 600,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522362.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573Lys",
"transcript": "XM_011522363.2",
"protein_id": "XP_011520665.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 587,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522363.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573Lys",
"transcript": "XM_011522364.2",
"protein_id": "XP_011520666.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 579,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522364.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "ENST00000947033.1",
"protein_id": "ENSP00000617092.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 482,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947033.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Gln435Gln",
"transcript": "ENST00000947032.1",
"protein_id": "ENSP00000617091.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 480,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947032.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Gln425Gln",
"transcript": "ENST00000853033.1",
"protein_id": "ENSP00000523092.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 462,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853033.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1242G>A",
"hgvs_p": "p.Gln414Gln",
"transcript": "ENST00000853031.1",
"protein_id": "ENSP00000523090.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 459,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853031.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Gln383Gln",
"transcript": "ENST00000853035.1",
"protein_id": "ENSP00000523094.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 428,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853035.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1107G>A",
"hgvs_p": "p.Gln369Gln",
"transcript": "ENST00000853032.1",
"protein_id": "ENSP00000523091.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 414,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853032.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1095G>A",
"hgvs_p": "p.Gln365Gln",
"transcript": "NM_001378031.1",
"protein_id": "NP_001364960.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 410,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378031.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1095G>A",
"hgvs_p": "p.Gln365Gln",
"transcript": "ENST00000853034.1",
"protein_id": "ENSP00000523093.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 410,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853034.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Gln236Gln",
"transcript": "NM_001378033.1",
"protein_id": "NP_001364962.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 281,
"cds_start": 708,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378033.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1794G>A",
"hgvs_p": "p.Gln598Gln",
"transcript": "XM_011522356.2",
"protein_id": "XP_011520658.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 643,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522356.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1782G>A",
"hgvs_p": "p.Gln594Gln",
"transcript": "XM_011522357.2",
"protein_id": "XP_011520659.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 639,
"cds_start": 1782,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522357.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1794G>A",
"hgvs_p": "p.Gln598Gln",
"transcript": "XM_011522358.3",
"protein_id": "XP_011520660.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 635,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522358.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1761G>A",
"hgvs_p": "p.Gln587Gln",
"transcript": "XM_011522359.2",
"protein_id": "XP_011520661.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 632,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522359.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1749G>A",
"hgvs_p": "p.Gln583Gln",
"transcript": "XM_011522360.2",
"protein_id": "XP_011520662.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 628,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522360.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Gln574Gln",
"transcript": "XM_011522361.2",
"protein_id": "XP_011520663.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 619,
"cds_start": 1722,
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{
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"protein_coding": false,
"strand": false,
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{
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"strand": false,
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],
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"exon_count": 13,
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"hgvs_c": "n.1478G>A",
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"biotype": "pseudogene",
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{
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],
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"exon_count": 13,
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{
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"strand": false,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 12,
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"gene_symbol": "CCDC78",
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"feature": "NR_165385.1"
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{
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"gene_symbol": "CCDC78",
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"hgvs_c": "n.1610G>A",
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165386.1"
}
],
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"dbsnp": "rs760280521",
"frequency_reference_population": 0.000039072434,
"hom_count_reference_population": 0,
"allele_count_reference_population": 63,
"gnomad_exomes_af": 0.0000301361,
"gnomad_genomes_af": 0.000124716,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.018242716789245605,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.1439,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.202,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001031737.3",
"gene_symbol": "CCDC78",
"hgnc_id": 14153,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys"
}
],
"clinvar_disease": "CCDC78-related disorder,Congenital myopathy with internal nuclei and atypical cores,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Congenital myopathy with internal nuclei and atypical cores|CCDC78-related disorder|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}