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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: 2-229802253-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=229802253&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 229802253,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000675903.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "NM_001348323.3",
"protein_id": "NP_001335252.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3204,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 3383,
"cdna_end": null,
"cdna_length": 10100,
"mane_select": "ENST00000675903.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "ENST00000675903.1",
"protein_id": "ENSP00000502713.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3204,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 3383,
"cdna_end": null,
"cdna_length": 10100,
"mane_select": "NM_001348323.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3123dupA",
"hgvs_p": "p.Gly1042fs",
"transcript": "ENST00000389044.8",
"protein_id": "ENSP00000373696.4",
"transcript_support_level": 1,
"aa_start": 1041,
"aa_end": null,
"aa_length": 2040,
"cds_start": 3123,
"cds_end": null,
"cds_length": 6123,
"cdna_start": 3292,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.2979dupA",
"hgvs_p": "p.Gly994fs",
"transcript": "ENST00000283943.9",
"protein_id": "ENSP00000283943.4",
"transcript_support_level": 1,
"aa_start": 993,
"aa_end": null,
"aa_length": 1992,
"cds_start": 2979,
"cds_end": null,
"cds_length": 5979,
"cdna_start": 3158,
"cdna_end": null,
"cdna_length": 9874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.2169dupA",
"hgvs_p": "p.Gly724fs",
"transcript": "ENST00000389045.7",
"protein_id": "ENSP00000373697.3",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 1722,
"cds_start": 2169,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3207dupA",
"hgvs_p": "p.Gly1070fs",
"transcript": "NM_001348328.1",
"protein_id": "NP_001335257.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3207,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 3386,
"cdna_end": null,
"cdna_length": 10103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3207dupA",
"hgvs_p": "p.Gly1070fs",
"transcript": "NM_001348329.2",
"protein_id": "NP_001335258.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3207,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 3737,
"cdna_end": null,
"cdna_length": 10454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3207dupA",
"hgvs_p": "p.Gly1070fs",
"transcript": "NM_001348330.2",
"protein_id": "NP_001335259.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3207,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 3775,
"cdna_end": null,
"cdna_length": 10492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3207dupA",
"hgvs_p": "p.Gly1070fs",
"transcript": "ENST00000675453.1",
"protein_id": "ENSP00000502271.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3207,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 3386,
"cdna_end": null,
"cdna_length": 10103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "NM_001348322.1",
"protein_id": "NP_001335251.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3204,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 3501,
"cdna_end": null,
"cdna_length": 10218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "NM_001348324.2",
"protein_id": "NP_001335253.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3204,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 3479,
"cdna_end": null,
"cdna_length": 10196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "NM_001348325.2",
"protein_id": "NP_001335254.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3204,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 3894,
"cdna_end": null,
"cdna_length": 10611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "NM_001348326.2",
"protein_id": "NP_001335255.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3204,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 3769,
"cdna_end": null,
"cdna_length": 10486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "NM_001348327.2",
"protein_id": "NP_001335256.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3204,
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"cds_length": 6204,
"cdna_start": 3772,
"cdna_end": null,
"cdna_length": 10489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "ENST00000675423.1",
"protein_id": "ENSP00000502768.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3204,
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"cdna_start": 3476,
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"cdna_length": 6645,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "ENST00000704577.1",
"protein_id": "ENSP00000515952.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3204,
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"cdna_start": 3484,
"cdna_end": null,
"cdna_length": 10129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3207dupA",
"hgvs_p": "p.Gly1070fs",
"transcript": "NM_001348321.1",
"protein_id": "NP_001335250.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 2063,
"cds_start": 3207,
"cds_end": null,
"cds_length": 6192,
"cdna_start": 3386,
"cdna_end": null,
"cdna_length": 10088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3207dupA",
"hgvs_p": "p.Gly1070fs",
"transcript": "ENST00000704581.1",
"protein_id": "ENSP00000515956.1",
"transcript_support_level": null,
"aa_start": 1069,
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"aa_length": 2063,
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"cdna_start": 3256,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "NM_001348319.1",
"protein_id": "NP_001335248.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
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"cds_start": 3204,
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"cdna_start": 3383,
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"cdna_length": 10085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3204dupA",
"hgvs_p": "p.Gly1069fs",
"transcript": "NM_001348320.2",
"protein_id": "NP_001335249.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
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"cds_start": 3204,
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"cdna_start": 3772,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3126dupA",
"hgvs_p": "p.Gly1043fs",
"transcript": "NM_001348333.1",
"protein_id": "NP_001335262.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 2041,
"cds_start": 3126,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 10022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3123dupA",
"hgvs_p": "p.Gly1042fs",
"transcript": "NM_001284214.2",
"protein_id": "NP_001271143.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 2040,
"cds_start": 3123,
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],
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Clark-Baraitser syndrome|Intellectual disability",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}