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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: 8-17966078-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17966078&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17966078,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000325083.13",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "NM_006197.4",
"protein_id": "NP_006188.4",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 2024,
"cds_start": 2935,
"cds_end": null,
"cds_length": 6075,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": "ENST00000325083.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "ENST00000325083.13",
"protein_id": "ENSP00000327077.8",
"transcript_support_level": 1,
"aa_start": 979,
"aa_end": null,
"aa_length": 2024,
"cds_start": 2935,
"cds_end": null,
"cds_length": 6075,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": "NM_006197.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "ENST00000519253.5",
"protein_id": "ENSP00000431099.1",
"transcript_support_level": 1,
"aa_start": 979,
"aa_end": null,
"aa_length": 2016,
"cds_start": 2935,
"cds_end": null,
"cds_length": 6051,
"cdna_start": 3186,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2938C>T",
"hgvs_p": "p.Gln980*",
"transcript": "ENST00000524226.5",
"protein_id": "ENSP00000430521.1",
"transcript_support_level": 1,
"aa_start": 980,
"aa_end": null,
"aa_length": 1860,
"cds_start": 2938,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 2997,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.3052C>T",
"hgvs_p": "p.Gln1018*",
"transcript": "NM_001352632.2",
"protein_id": "NP_001339561.2",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3052,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 3343,
"cdna_end": null,
"cdna_length": 8781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.3052C>T",
"hgvs_p": "p.Gln1018*",
"transcript": "NM_001352650.2",
"protein_id": "NP_001339579.2",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 2063,
"cds_start": 3052,
"cds_end": null,
"cds_length": 6192,
"cdna_start": 3680,
"cdna_end": null,
"cdna_length": 9106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.3052C>T",
"hgvs_p": "p.Gln1018*",
"transcript": "NM_001352651.2",
"protein_id": "NP_001339580.2",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 2063,
"cds_start": 3052,
"cds_end": null,
"cds_length": 6192,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 8701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.3052C>T",
"hgvs_p": "p.Gln1018*",
"transcript": "NM_001352633.2",
"protein_id": "NP_001339562.2",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 2062,
"cds_start": 3052,
"cds_end": null,
"cds_length": 6189,
"cdna_start": 3680,
"cdna_end": null,
"cdna_length": 9103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "ENST00000522275.6",
"protein_id": "ENSP00000429054.2",
"transcript_support_level": 2,
"aa_start": 979,
"aa_end": null,
"aa_length": 2043,
"cds_start": 2935,
"cds_end": null,
"cds_length": 6132,
"cdna_start": 3372,
"cdna_end": null,
"cdna_length": 6654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "NM_001352634.2",
"protein_id": "NP_001339563.2",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 2028,
"cds_start": 2935,
"cds_end": null,
"cds_length": 6087,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 8664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "NM_001352652.2",
"protein_id": "NP_001339581.2",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 2024,
"cds_start": 2935,
"cds_end": null,
"cds_length": 6075,
"cdna_start": 3158,
"cdna_end": null,
"cdna_length": 8584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "NM_001352653.2",
"protein_id": "NP_001339582.2",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 2024,
"cds_start": 2935,
"cds_end": null,
"cds_length": 6075,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 8989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2938C>T",
"hgvs_p": "p.Gln980*",
"transcript": "NM_001352635.2",
"protein_id": "NP_001339564.2",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 2017,
"cds_start": 2938,
"cds_end": null,
"cds_length": 6054,
"cdna_start": 3566,
"cdna_end": null,
"cdna_length": 8968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "NM_001315507.2",
"protein_id": "NP_001302436.2",
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"aa_start": 979,
"aa_end": null,
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"cds_start": 2935,
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"cdna_start": 3226,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.3055C>T",
"hgvs_p": "p.Gln1019*",
"transcript": "NM_001352636.2",
"protein_id": "NP_001339565.2",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 2009,
"cds_start": 3055,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 3346,
"cdna_end": null,
"cdna_length": 8607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.3052C>T",
"hgvs_p": "p.Gln1018*",
"transcript": "NM_001352637.2",
"protein_id": "NP_001339566.2",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 3052,
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"cdna_start": 3343,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.3052C>T",
"hgvs_p": "p.Gln1018*",
"transcript": "NM_001352638.2",
"protein_id": "NP_001339567.2",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 2000,
"cds_start": 3052,
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"cds_length": 6003,
"cdna_start": 3612,
"cdna_end": null,
"cdna_length": 8849,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "NM_001352639.2",
"protein_id": "NP_001339568.2",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1973,
"cds_start": 2935,
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"cds_length": 5922,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 8499,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2938C>T",
"hgvs_p": "p.Gln980*",
"transcript": "NM_001352640.2",
"protein_id": "NP_001339569.2",
"transcript_support_level": null,
"aa_start": 980,
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"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "NM_001352644.2",
"protein_id": "NP_001339573.2",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1969,
"cds_start": 2935,
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"cdna_start": 3226,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "NM_001352645.2",
"protein_id": "NP_001339574.2",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1969,
"cds_start": 2935,
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"cdna_start": 3563,
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"cdna_length": 8824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.2935C>T",
"hgvs_p": "p.Gln979*",
"transcript": "NM_001352641.2",
"protein_id": "NP_001339570.2",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1965,
"cds_start": 2935,
"cds_end": null,
"cds_length": 5898,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 8475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
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"phenotype_combined": "Thyroid cancer, nonmedullary, 1",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}