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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: 22-29331890-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29331890&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "AP1B1",
"hgnc_id": 554,
"hgvs_c": "c.2335delC",
"hgvs_p": "p.Leu779fs",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001127.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Autosomal recessive keratitis-ichthyosis-deafness syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 949,
"aa_ref": "L",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2335,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001127.4",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2335delC",
"hgvs_p": "p.Leu779fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357586.7",
"protein_coding": true,
"protein_id": "NP_001118.3",
"strand": false,
"transcript": "NM_001127.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 949,
"aa_ref": "L",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2335,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000357586.7",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2335delC",
"hgvs_p": "p.Leu779fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127.4",
"protein_coding": true,
"protein_id": "ENSP00000350199.2",
"strand": false,
"transcript": "ENST00000357586.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 919,
"aa_ref": "L",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 2441,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2254,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000317368.11",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2254delC",
"hgvs_p": "p.Leu752fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319361.7",
"strand": false,
"transcript": "ENST00000317368.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000482818.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "n.431delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000482818.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1009,
"aa_ref": "L",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4325,
"cdna_start": 2678,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2524,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000921604.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2524delC",
"hgvs_p": "p.Leu842fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591663.1",
"strand": false,
"transcript": "ENST00000921604.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4090,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2314,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000852348.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2314delC",
"hgvs_p": "p.Leu772fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522407.1",
"strand": false,
"transcript": "ENST00000852348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 964,
"aa_ref": "L",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 2530,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2389,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000921609.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2389delC",
"hgvs_p": "p.Leu797fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591668.1",
"strand": false,
"transcript": "ENST00000921609.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 948,
"aa_ref": "L",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2341,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000852346.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2341delC",
"hgvs_p": "p.Leu781fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522405.1",
"strand": false,
"transcript": "ENST00000852346.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 946,
"aa_ref": "L",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2335,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001378562.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2335delC",
"hgvs_p": "p.Leu779fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365491.1",
"strand": false,
"transcript": "NM_001378562.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 946,
"aa_ref": "L",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4198,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2335,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000852342.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2335delC",
"hgvs_p": "p.Leu779fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522401.1",
"strand": false,
"transcript": "ENST00000852342.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 946,
"aa_ref": "L",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2335,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000852350.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2335delC",
"hgvs_p": "p.Leu779fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522409.1",
"strand": false,
"transcript": "ENST00000852350.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 942,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4144,
"cdna_start": 2488,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2314,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001378563.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2314delC",
"hgvs_p": "p.Leu772fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365492.1",
"strand": false,
"transcript": "NM_001378563.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 939,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 2488,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2314,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_145730.3",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2314delC",
"hgvs_p": "p.Leu772fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663782.2",
"strand": false,
"transcript": "NM_145730.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 939,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2314,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000405198.6",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2314delC",
"hgvs_p": "p.Leu772fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384194.2",
"strand": false,
"transcript": "ENST00000405198.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 939,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2314,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000432560.6",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2314delC",
"hgvs_p": "p.Leu772fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400065.2",
"strand": false,
"transcript": "ENST00000432560.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 939,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2314,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000852344.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2314delC",
"hgvs_p": "p.Leu772fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522403.1",
"strand": false,
"transcript": "ENST00000852344.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 939,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3970,
"cdna_start": 2499,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2314,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000852347.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2314delC",
"hgvs_p": "p.Leu772fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522406.1",
"strand": false,
"transcript": "ENST00000852347.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 939,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 2403,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2314,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000852351.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2314delC",
"hgvs_p": "p.Leu772fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522410.1",
"strand": false,
"transcript": "ENST00000852351.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 938,
"aa_ref": "L",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2311,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000852349.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2311delC",
"hgvs_p": "p.Leu771fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522408.1",
"strand": false,
"transcript": "ENST00000852349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 937,
"aa_ref": "L",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 2482,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2308,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000921603.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2308delC",
"hgvs_p": "p.Leu770fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591662.1",
"strand": false,
"transcript": "ENST00000921603.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 935,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3922,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2314,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000921606.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2314delC",
"hgvs_p": "p.Leu772fs",
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