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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: 1-147287691-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=147287691&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 147287691,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000369258.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.2278G>C",
"hgvs_p": "p.Ala760Pro",
"transcript": "NM_004284.6",
"protein_id": "NP_004275.4",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 897,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": "ENST00000369258.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.2278G>C",
"hgvs_p": "p.Ala760Pro",
"transcript": "ENST00000369258.8",
"protein_id": "ENSP00000358262.4",
"transcript_support_level": 1,
"aa_start": 760,
"aa_end": null,
"aa_length": 897,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": "NM_004284.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1666G>C",
"hgvs_p": "p.Ala556Pro",
"transcript": "ENST00000369259.4",
"protein_id": "ENSP00000358263.3",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 693,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.*959G>C",
"hgvs_p": null,
"transcript": "ENST00000467213.5",
"protein_id": "ENSP00000477985.1",
"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": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.*959G>C",
"hgvs_p": null,
"transcript": "ENST00000467213.5",
"protein_id": "ENSP00000477985.1",
"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": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LINC00624",
"gene_hgnc_id": 44254,
"hgvs_c": "n.997-26715C>G",
"hgvs_p": null,
"transcript": "ENST00000619867.4",
"protein_id": null,
"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": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.2062G>C",
"hgvs_p": "p.Ala688Pro",
"transcript": "NM_001348451.2",
"protein_id": "NP_001335380.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 825,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.2062G>C",
"hgvs_p": "p.Ala688Pro",
"transcript": "NM_001348452.2",
"protein_id": "NP_001335381.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 825,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.2062G>C",
"hgvs_p": "p.Ala688Pro",
"transcript": "ENST00000431239.6",
"protein_id": "ENSP00000389031.3",
"transcript_support_level": 5,
"aa_start": 688,
"aa_end": null,
"aa_length": 825,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1978G>C",
"hgvs_p": "p.Ala660Pro",
"transcript": "NM_001256336.3",
"protein_id": "NP_001243265.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 797,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Ala655Pro",
"transcript": "ENST00000650714.1",
"protein_id": "ENSP00000499169.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 792,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1939G>C",
"hgvs_p": "p.Ala647Pro",
"transcript": "NM_001348453.2",
"protein_id": "NP_001335382.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 784,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1939G>C",
"hgvs_p": "p.Ala647Pro",
"transcript": "NM_024568.4",
"protein_id": "NP_078844.2",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 784,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1822G>C",
"hgvs_p": "p.Ala608Pro",
"transcript": "NM_001348454.2",
"protein_id": "NP_001335383.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 745,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1822G>C",
"hgvs_p": "p.Ala608Pro",
"transcript": "ENST00000361293.10",
"protein_id": "ENSP00000355100.6",
"transcript_support_level": 2,
"aa_start": 608,
"aa_end": null,
"aa_length": 745,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1789G>C",
"hgvs_p": "p.Ala597Pro",
"transcript": "NM_001348455.2",
"protein_id": "NP_001335384.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 734,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2266,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1666G>C",
"hgvs_p": "p.Ala556Pro",
"transcript": "NM_001256338.3",
"protein_id": "NP_001243267.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 693,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Ala479Pro",
"transcript": "NM_001256337.3",
"protein_id": "NP_001243266.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 616,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Ala479Pro",
"transcript": "NM_001348456.2",
"protein_id": "NP_001335385.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 616,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Ala479Pro",
"transcript": "NM_001348457.2",
"protein_id": "NP_001335386.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 616,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Ala479Pro",
"transcript": "NM_001348458.2",
"protein_id": "NP_001335387.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 616,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Ala479Pro",
"transcript": "NM_001348459.2",
"protein_id": "NP_001335388.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 616,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Ala479Pro",
"transcript": "NM_001348460.2",
"protein_id": "NP_001335389.1",
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"hgvs_c": "n.2340G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000619867.4",
"gene_symbol": "LINC00624",
"hgnc_id": 44254,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.997-26715C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}