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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: 9-2650488-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2650488&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2650488,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000382100.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.2223T>C",
"hgvs_p": "p.Asn741Asn",
"transcript": "NM_003383.5",
"protein_id": "NP_003374.3",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 873,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": "ENST00000382100.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.2223T>C",
"hgvs_p": "p.Asn741Asn",
"transcript": "ENST00000382100.8",
"protein_id": "ENSP00000371532.2",
"transcript_support_level": 1,
"aa_start": 741,
"aa_end": null,
"aa_length": 873,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": "NM_003383.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1779T>C",
"hgvs_p": "p.Asn593Asn",
"transcript": "ENST00000382099.3",
"protein_id": "ENSP00000371531.3",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 725,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.2223T>C",
"hgvs_p": "p.Asn741Asn",
"transcript": "NM_001018056.3",
"protein_id": "NP_001018066.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 845,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 9129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.2223T>C",
"hgvs_p": "p.Asn741Asn",
"transcript": "ENST00000681306.1",
"protein_id": "ENSP00000506072.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 845,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 5723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.2100T>C",
"hgvs_p": "p.Asn700Asn",
"transcript": "NM_001322225.2",
"protein_id": "NP_001309154.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 832,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 9090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.2100T>C",
"hgvs_p": "p.Asn700Asn",
"transcript": "ENST00000680746.1",
"protein_id": "ENSP00000505030.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 832,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2723,
"cdna_end": null,
"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.2100T>C",
"hgvs_p": "p.Asn700Asn",
"transcript": "NM_001322226.2",
"protein_id": "NP_001309155.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 804,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 9006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.2100T>C",
"hgvs_p": "p.Asn700Asn",
"transcript": "ENST00000681618.1",
"protein_id": "ENSP00000505773.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 804,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1788T>C",
"hgvs_p": "p.Asn596Asn",
"transcript": "ENST00000680219.1",
"protein_id": "ENSP00000506614.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 604,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1816,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1647T>C",
"hgvs_p": "p.Asn549Asn",
"transcript": "ENST00000680296.1",
"protein_id": "ENSP00000506448.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 557,
"cds_start": 1647,
"cds_end": null,
"cds_length": 1675,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 1677,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1649T>C",
"hgvs_p": null,
"transcript": "ENST00000679488.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3257,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1459T>C",
"hgvs_p": null,
"transcript": "ENST00000679718.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3021,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1639T>C",
"hgvs_p": null,
"transcript": "ENST00000679750.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4079,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.999T>C",
"hgvs_p": null,
"transcript": "ENST00000679780.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1736,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.3022T>C",
"hgvs_p": null,
"transcript": "ENST00000679851.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3951,
"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": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.2423T>C",
"hgvs_p": null,
"transcript": "ENST00000680021.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2875,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1773T>C",
"hgvs_p": null,
"transcript": "ENST00000680043.1",
"protein_id": "ENSP00000505223.1",
"transcript_support_level": null,
"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": 3519,
"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": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*1862T>C",
"hgvs_p": null,
"transcript": "ENST00000680243.1",
"protein_id": "ENSP00000505911.1",
"transcript_support_level": null,
"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": 3068,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1856T>C",
"hgvs_p": null,
"transcript": "ENST00000680332.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5594,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.363T>C",
"hgvs_p": null,
"transcript": "ENST00000680440.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1932,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1628T>C",
"hgvs_p": null,
"transcript": "ENST00000680751.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3532,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*2015T>C",
"hgvs_p": null,
"transcript": "ENST00000680891.1",
"protein_id": "ENSP00000505167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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}
],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.83,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -11,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000382100.8",
"gene_symbol": "VLDLR",
"hgnc_id": 12698,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2223T>C",
"hgvs_p": "p.Asn741Asn"
},
{
"score": -10,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_929435.3",
"gene_symbol": "LOC105375957",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2825A>G",
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}