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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: 4-106236758-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=106236758&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 106236758,
"ref": "C",
"alt": "T",
"effect": "splice_donor_variant,intron_variant",
"transcript": "ENST00000394708.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "NM_001163435.3",
"protein_id": "NP_001156907.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7961,
"mane_select": "ENST00000394708.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "ENST00000394708.7",
"protein_id": "ENSP00000378198.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7961,
"mane_select": "NM_001163435.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1103+1G>A",
"hgvs_p": null,
"transcript": "ENST00000394706.7",
"protein_id": "ENSP00000378196.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3349,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1031+1G>A",
"hgvs_p": null,
"transcript": "ENST00000361687.8",
"protein_id": "ENSP00000355338.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "n.*859+1G>A",
"hgvs_p": null,
"transcript": "ENST00000467183.6",
"protein_id": "ENSP00000421182.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3566,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "NM_001163436.4",
"protein_id": "NP_001156908.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7818,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "ENST00000273980.10",
"protein_id": "ENSP00000273980.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7818,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1103+1G>A",
"hgvs_p": null,
"transcript": "NM_001163437.3",
"protein_id": "NP_001156909.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7844,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1031+1G>A",
"hgvs_p": null,
"transcript": "NM_033115.5",
"protein_id": "NP_149106.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7772,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.704+1G>A",
"hgvs_p": null,
"transcript": "NM_001290768.2",
"protein_id": "NP_001277697.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8062,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.-191+1G>A",
"hgvs_p": null,
"transcript": "ENST00000503516.1",
"protein_id": "ENSP00000423834.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": -4,
"cds_end": null,
"cds_length": 169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "n.*65+1G>A",
"hgvs_p": null,
"transcript": "ENST00000508666.5",
"protein_id": "ENSP00000422160.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "n.873+1G>A",
"hgvs_p": null,
"transcript": "ENST00000510927.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
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"transcript": "XM_011532417.3",
"protein_id": "XP_011530719.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "XM_017008846.2",
"protein_id": "XP_016864335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
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"cdna_start": null,
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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": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "XM_024454281.2",
"protein_id": "XP_024310049.1",
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"cdna_start": null,
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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": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "XM_017008847.3",
"protein_id": "XP_016864336.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3796,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "XM_047416422.1",
"protein_id": "XP_047272378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "XM_047416423.1",
"protein_id": "XP_047272379.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1220+1G>A",
"hgvs_p": null,
"transcript": "XM_047416424.1",
"protein_id": "XP_047272380.1",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1031+1G>A",
"hgvs_p": null,
"transcript": "XM_047416425.1",
"protein_id": "XP_047272381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7776,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1031+1G>A",
"hgvs_p": null,
"transcript": "XM_047416426.1",
"protein_id": "XP_047272382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
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"cds_length": 2385,
"cdna_start": null,
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"cdna_length": 3607,
"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_donor_variant",
"intron_variant"
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{
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"clinvar_disease": " infantile, with psychomotor retardation and characteristic facies 3,Hypotonia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:1",
"phenotype_combined": "not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}