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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: 16-724472-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=724472&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 724472,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000345165.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Thr268Met",
"transcript": "NM_001378030.1",
"protein_id": "NP_001364959.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 470,
"cds_start": 803,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "ENST00000345165.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Thr268Met",
"transcript": "ENST00000345165.10",
"protein_id": "ENSP00000316851.5",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 470,
"cds_start": 803,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "NM_001378030.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Thr268Met",
"transcript": "ENST00000293889.10",
"protein_id": "ENSP00000293889.6",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 438,
"cds_start": 803,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Thr268Met",
"transcript": "NM_001031737.3",
"protein_id": "NP_001026907.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 438,
"cds_start": 803,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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.803C>T",
"hgvs_p": "p.Thr268Met",
"transcript": "NM_001378031.1",
"protein_id": "NP_001364960.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 410,
"cds_start": 803,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Thr79Met",
"transcript": "NM_001378033.1",
"protein_id": "NP_001364962.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 281,
"cds_start": 236,
"cds_end": null,
"cds_length": 846,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Thr417Met",
"transcript": "XM_011522356.2",
"protein_id": "XP_011520658.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 643,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Thr413Met",
"transcript": "XM_011522357.2",
"protein_id": "XP_011520659.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 639,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Thr417Met",
"transcript": "XM_011522358.3",
"protein_id": "XP_011520660.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 635,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Thr406Met",
"transcript": "XM_011522359.2",
"protein_id": "XP_011520661.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 632,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Thr402Met",
"transcript": "XM_011522360.2",
"protein_id": "XP_011520662.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 628,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Thr417Met",
"transcript": "XM_011522361.2",
"protein_id": "XP_011520663.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 619,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Thr417Met",
"transcript": "XM_017022929.2",
"protein_id": "XP_016878418.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 611,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Thr417Met",
"transcript": "XM_011522362.2",
"protein_id": "XP_011520664.1",
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"aa_start": 417,
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"cds_start": 1250,
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"cdna_start": 1326,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Thr417Met",
"transcript": "XM_011522363.2",
"protein_id": "XP_011520665.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 587,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Thr417Met",
"transcript": "XM_011522364.2",
"protein_id": "XP_011520666.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
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"cds_start": 1250,
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"cdna_start": 1326,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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.1037C>T",
"hgvs_p": "p.Thr346Met",
"transcript": "XM_011522365.2",
"protein_id": "XP_011520667.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 572,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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.1028C>T",
"hgvs_p": "p.Thr343Met",
"transcript": "XM_011522366.2",
"protein_id": "XP_011520668.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 569,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1025C>T",
"hgvs_p": "p.Thr342Met",
"transcript": "XM_006720838.2",
"protein_id": "XP_006720901.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 568,
"cds_start": 1025,
"cds_end": null,
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"cdna_start": 1101,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1025C>T",
"hgvs_p": "p.Thr342Met",
"transcript": "XM_047433602.1",
"protein_id": "XP_047289558.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 544,
"cds_start": 1025,
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"cdna_start": 1101,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Thr290Met",
"transcript": "XM_011522367.2",
"protein_id": "XP_011520669.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 516,
"cds_start": 869,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Thr286Met",
"transcript": "XM_011522368.2",
"protein_id": "XP_011520670.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 512,
"cds_start": 857,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.815C>T",
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"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|Congenital myopathy with internal nuclei and atypical cores|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}