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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: 17-37244707-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=37244707&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 37244707,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000616317.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2623C>T",
"hgvs_p": "p.Arg875Trp",
"transcript": "NM_198834.3",
"protein_id": "NP_942131.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 2383,
"cds_start": 2623,
"cds_end": null,
"cds_length": 7152,
"cdna_start": 3160,
"cdna_end": null,
"cdna_length": 10013,
"mane_select": "ENST00000616317.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2623C>T",
"hgvs_p": "p.Arg875Trp",
"transcript": "ENST00000616317.5",
"protein_id": "ENSP00000483300.1",
"transcript_support_level": 1,
"aa_start": 875,
"aa_end": null,
"aa_length": 2383,
"cds_start": 2623,
"cds_end": null,
"cds_length": 7152,
"cdna_start": 3160,
"cdna_end": null,
"cdna_length": 10013,
"mane_select": "NM_198834.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "ENST00000614428.4",
"protein_id": "ENSP00000478547.1",
"transcript_support_level": 1,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 9554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "n.2708C>T",
"hgvs_p": null,
"transcript": "ENST00000613146.4",
"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": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "NM_198836.3",
"protein_id": "NP_942133.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 9536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "NM_198839.3",
"protein_id": "NP_942136.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 10687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "NM_198837.2",
"protein_id": "NP_942134.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 2288,
"cds_start": 2338,
"cds_end": null,
"cds_length": 6867,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 9626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "ENST00000612895.4",
"protein_id": "ENSP00000482269.1",
"transcript_support_level": 5,
"aa_start": 780,
"aa_end": null,
"aa_length": 2288,
"cds_start": 2338,
"cds_end": null,
"cds_length": 6867,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 9624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Arg760Trp",
"transcript": "NM_198838.2",
"protein_id": "NP_942135.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 2268,
"cds_start": 2278,
"cds_end": null,
"cds_length": 6807,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 9737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Arg760Trp",
"transcript": "ENST00000617649.4",
"protein_id": "ENSP00000482368.1",
"transcript_support_level": 5,
"aa_start": 760,
"aa_end": null,
"aa_length": 2268,
"cds_start": 2278,
"cds_end": null,
"cds_length": 6807,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 7912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2623C>T",
"hgvs_p": "p.Arg875Trp",
"transcript": "XM_006721853.2",
"protein_id": "XP_006721916.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 2375,
"cds_start": 2623,
"cds_end": null,
"cds_length": 7128,
"cdna_start": 3160,
"cdna_end": null,
"cdna_length": 9989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2533C>T",
"hgvs_p": "p.Arg845Trp",
"transcript": "XM_011524701.2",
"protein_id": "XP_011523003.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 2353,
"cds_start": 2533,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 3070,
"cdna_end": null,
"cdna_length": 9923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "XM_011524703.1",
"protein_id": "XP_011523005.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 9541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "XM_047435878.1",
"protein_id": "XP_047291834.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 10447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "XM_047435879.1",
"protein_id": "XP_047291835.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 3564,
"cdna_end": null,
"cdna_length": 10417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "XM_047435880.1",
"protein_id": "XP_047291836.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
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"cdna_start": 3570,
"cdna_end": null,
"cdna_length": 10423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "XM_047435881.1",
"protein_id": "XP_047291837.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 3054,
"cdna_end": null,
"cdna_length": 9907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "XM_047435882.1",
"protein_id": "XP_047291838.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 3468,
"cdna_end": null,
"cdna_length": 10321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "XM_047435883.1",
"protein_id": "XP_047291839.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2346,
"cds_start": 2512,
"cds_end": null,
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"cdna_start": 2961,
"cdna_end": null,
"cdna_length": 9814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "XM_047435884.1",
"protein_id": "XP_047291840.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2338,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7017,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 9512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "XM_047435885.1",
"protein_id": "XP_047291841.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 2338,
"cds_start": 2512,
"cds_end": null,
"cds_length": 7017,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 9517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "XM_047435886.1",
"protein_id": "XP_047291842.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 2288,
"cds_start": 2338,
"cds_end": null,
"cds_length": 6867,
"cdna_start": 2762,
"cdna_end": null,
"cdna_length": 9615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Arg779Trp",
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{
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"BS2"
],
"verdict": "Benign",
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{
"score": -10,
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}