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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: 4-106247238-G-GTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=106247238&ref=G&alt=GTA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 106247238,
"ref": "G",
"alt": "GTA",
"effect": "frameshift_variant",
"transcript": "NM_001163435.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "NM_001163435.3",
"protein_id": "NP_001156907.2",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 893,
"cds_start": 831,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394708.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163435.3"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000394708.7",
"protein_id": "ENSP00000378198.2",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 893,
"cds_start": 831,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001163435.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394708.7"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.714_715insTA",
"hgvs_p": "p.Pro239fs",
"transcript": "ENST00000394706.7",
"protein_id": "ENSP00000378196.3",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 854,
"cds_start": 714,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394706.7"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.642_643insTA",
"hgvs_p": "p.Pro215fs",
"transcript": "ENST00000361687.8",
"protein_id": "ENSP00000355338.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 830,
"cds_start": 642,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361687.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "n.*470_*471insTA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467183.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "n.*470_*471insTA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467183.6"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "NM_001163436.4",
"protein_id": "NP_001156908.2",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 893,
"cds_start": 831,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163436.4"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000273980.10",
"protein_id": "ENSP00000273980.4",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 893,
"cds_start": 831,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273980.10"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000885939.1",
"protein_id": "ENSP00000555998.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 893,
"cds_start": 831,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885939.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.828_829insTA",
"hgvs_p": "p.Pro277fs",
"transcript": "ENST00000923624.1",
"protein_id": "ENSP00000593683.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 892,
"cds_start": 828,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923624.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000885938.1",
"protein_id": "ENSP00000555997.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 885,
"cds_start": 831,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885938.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000885940.1",
"protein_id": "ENSP00000555999.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 884,
"cds_start": 831,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885940.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000885937.1",
"protein_id": "ENSP00000555996.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 876,
"cds_start": 831,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885937.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000967908.1",
"protein_id": "ENSP00000637967.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 872,
"cds_start": 831,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967908.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000967910.1",
"protein_id": "ENSP00000637969.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 872,
"cds_start": 831,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967910.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.714_715insTA",
"hgvs_p": "p.Pro239fs",
"transcript": "NM_001163437.3",
"protein_id": "NP_001156909.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 854,
"cds_start": 714,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163437.3"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.642_643insTA",
"hgvs_p": "p.Pro215fs",
"transcript": "NM_033115.5",
"protein_id": "NP_149106.3",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 830,
"cds_start": 642,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033115.5"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.642_643insTA",
"hgvs_p": "p.Pro215fs",
"transcript": "ENST00000967909.1",
"protein_id": "ENSP00000637968.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 830,
"cds_start": 642,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967909.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000923625.1",
"protein_id": "ENSP00000593684.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 798,
"cds_start": 831,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923625.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "ENST00000885941.1",
"protein_id": "ENSP00000556000.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 768,
"cds_start": 831,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885941.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.315_316insTA",
"hgvs_p": "p.Pro106fs",
"transcript": "NM_001290768.2",
"protein_id": "NP_001277697.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 721,
"cds_start": 315,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290768.2"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs",
"transcript": "XM_011532417.3",
"protein_id": "XP_011530719.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 893,
"cds_start": 831,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
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"hgvs_c": "c.831_832insTA",
"hgvs_p": "p.Pro278fs"
}
],
"clinvar_disease": " infantile, with psychomotor retardation and characteristic facies 3,Hypotonia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}