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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: 16-19647870-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19647870&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19647870,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_020314.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2017delC",
"hgvs_p": "p.Gln673fs",
"transcript": "NM_020314.7",
"protein_id": "NP_064710.5",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 963,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": "ENST00000417362.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020314.7"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2017delC",
"hgvs_p": "p.Gln673fs",
"transcript": "ENST00000417362.7",
"protein_id": "ENSP00000395973.3",
"transcript_support_level": 1,
"aa_start": 673,
"aa_end": null,
"aa_length": 963,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": "NM_020314.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417362.7"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2284delC",
"hgvs_p": "p.Gln762fs",
"transcript": "ENST00000251143.9",
"protein_id": "ENSP00000251143.6",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2284,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251143.9"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1264delC",
"hgvs_p": "p.Gln422fs",
"transcript": "ENST00000543152.5",
"protein_id": "ENSP00000457973.1",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 712,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543152.5"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2017delC",
"hgvs_p": "p.Gln673fs",
"transcript": "ENST00000925646.1",
"protein_id": "ENSP00000595705.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 989,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925646.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1969delC",
"hgvs_p": "p.Gln657fs",
"transcript": "ENST00000959641.1",
"protein_id": "ENSP00000629700.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 947,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959641.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1963delC",
"hgvs_p": "p.Gln655fs",
"transcript": "ENST00000959642.1",
"protein_id": "ENSP00000629701.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 945,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959642.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1957delC",
"hgvs_p": "p.Gln653fs",
"transcript": "ENST00000858380.1",
"protein_id": "ENSP00000528439.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 943,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858380.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1954delC",
"hgvs_p": "p.Gln652fs",
"transcript": "ENST00000858387.1",
"protein_id": "ENSP00000528446.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 942,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858387.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2017delC",
"hgvs_p": "p.Gln673fs",
"transcript": "NM_001365293.2",
"protein_id": "NP_001352222.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 937,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365293.2"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2017delC",
"hgvs_p": "p.Gln673fs",
"transcript": "ENST00000858378.1",
"protein_id": "ENSP00000528437.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 937,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858378.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1939delC",
"hgvs_p": "p.Gln647fs",
"transcript": "ENST00000858385.1",
"protein_id": "ENSP00000528444.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 937,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858385.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1936delC",
"hgvs_p": "p.Gln646fs",
"transcript": "ENST00000858381.1",
"protein_id": "ENSP00000528440.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 936,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858381.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1936delC",
"hgvs_p": "p.Gln646fs",
"transcript": "ENST00000858383.1",
"protein_id": "ENSP00000528442.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 936,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858383.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2071delC",
"hgvs_p": "p.Gln691fs",
"transcript": "ENST00000925649.1",
"protein_id": "ENSP00000595708.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 932,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925649.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1894delC",
"hgvs_p": "p.Gln632fs",
"transcript": "ENST00000858384.1",
"protein_id": "ENSP00000528443.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 922,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858384.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2032delC",
"hgvs_p": "p.Gln678fs",
"transcript": "ENST00000959639.1",
"protein_id": "ENSP00000629698.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 919,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959639.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1873delC",
"hgvs_p": "p.Gln625fs",
"transcript": "ENST00000925650.1",
"protein_id": "ENSP00000595709.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 915,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925650.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.2017delC",
"hgvs_p": "p.Gln673fs",
"transcript": "ENST00000858382.1",
"protein_id": "ENSP00000528441.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 914,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858382.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1816delC",
"hgvs_p": "p.Gln606fs",
"transcript": "NM_001365294.2",
"protein_id": "NP_001352223.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 896,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365294.2"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1816delC",
"hgvs_p": "p.Gln606fs",
"transcript": "ENST00000858379.1",
"protein_id": "ENSP00000528438.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 896,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858379.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.1816delC",
"hgvs_p": "p.Gln606fs",
"transcript": "ENST00000925648.1",
"protein_id": "ENSP00000595707.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 886,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1827,
"cdna_end": null,
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],
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Ritscher-Schinzel syndrome 3",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}