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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: 16-725878-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=725878&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 725878,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000345165.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Ile61Met",
"transcript": "NM_001378030.1",
"protein_id": "NP_001364959.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 470,
"cds_start": 183,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "ENST00000345165.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Ile61Met",
"transcript": "ENST00000345165.10",
"protein_id": "ENSP00000316851.5",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 470,
"cds_start": 183,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "NM_001378030.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Ile61Met",
"transcript": "ENST00000293889.10",
"protein_id": "ENSP00000293889.6",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 438,
"cds_start": 183,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.-103C>G",
"hgvs_p": null,
"transcript": "NM_001378033.1",
"protein_id": "NP_001364962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.-115C>G",
"hgvs_p": null,
"transcript": "XM_047433603.1",
"protein_id": "XP_047289559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.-115C>G",
"hgvs_p": null,
"transcript": "XM_047433604.1",
"protein_id": "XP_047289560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.-271C>G",
"hgvs_p": null,
"transcript": "XM_047433605.1",
"protein_id": "XP_047289561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.-271C>G",
"hgvs_p": null,
"transcript": "XM_047433606.1",
"protein_id": "XP_047289562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Ile61Met",
"transcript": "NM_001031737.3",
"protein_id": "NP_001026907.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 438,
"cds_start": 183,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Ile61Met",
"transcript": "NM_001378031.1",
"protein_id": "NP_001364960.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 410,
"cds_start": 183,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.-103C>G",
"hgvs_p": null,
"transcript": "NM_001378033.1",
"protein_id": "NP_001364962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "ENST00000650995.1",
"protein_id": "ENSP00000498860.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 162,
"cds_start": 405,
"cds_end": null,
"cds_length": 489,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_011522356.2",
"protein_id": "XP_011520658.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 643,
"cds_start": 405,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_011522357.2",
"protein_id": "XP_011520659.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 639,
"cds_start": 405,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_011522358.3",
"protein_id": "XP_011520660.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 635,
"cds_start": 405,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_011522359.2",
"protein_id": "XP_011520661.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 632,
"cds_start": 405,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_011522360.2",
"protein_id": "XP_011520662.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 628,
"cds_start": 405,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_011522361.2",
"protein_id": "XP_011520663.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 619,
"cds_start": 405,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_017022929.2",
"protein_id": "XP_016878418.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 611,
"cds_start": 405,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_011522362.2",
"protein_id": "XP_011520664.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 600,
"cds_start": 405,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_011522363.2",
"protein_id": "XP_011520665.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 587,
"cds_start": 405,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.405C>G",
"hgvs_p": "p.Ile135Met",
"transcript": "XM_011522364.2",
"protein_id": "XP_011520666.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 579,
"cds_start": 405,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
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"phylop100way_prediction": "Benign",
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{
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],
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Congenital myopathy with internal nuclei and atypical cores|CCDC78-related disorder",
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}
],
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}