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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: 11-126437015-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126437015&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126437015,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000525144.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "NM_032531.4",
"protein_id": "NP_115920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "ENST00000525144.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "ENST00000525144.7",
"protein_id": "ENSP00000435466.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "NM_032531.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "ENST00000529097.6",
"protein_id": "ENSP00000434081.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "ENST00000525704.2",
"protein_id": "ENSP00000435094.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1462-6G>A",
"hgvs_p": null,
"transcript": "NM_001441252.1",
"protein_id": "NP_001428181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": -4,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "NM_001441253.1",
"protein_id": "NP_001428182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": -4,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "NM_001441251.1",
"protein_id": "NP_001428180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1393-6G>A",
"hgvs_p": null,
"transcript": "NM_001441254.1",
"protein_id": "NP_001428183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1312-6G>A",
"hgvs_p": null,
"transcript": "NM_001441255.1",
"protein_id": "NP_001428184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 789,
"cds_start": -4,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1393-6G>A",
"hgvs_p": null,
"transcript": "NM_001441256.1",
"protein_id": "NP_001428185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "NM_001441257.1",
"protein_id": "NP_001428186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "NM_001441258.1",
"protein_id": "NP_001428187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "NM_001301097.2",
"protein_id": "NP_001288026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1312-6G>A",
"hgvs_p": null,
"transcript": "NM_001441259.1",
"protein_id": "NP_001428188.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1312-6G>A",
"hgvs_p": null,
"transcript": "NM_001441260.1",
"protein_id": "NP_001428189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "NM_001441261.1",
"protein_id": "NP_001428190.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1204-6G>A",
"hgvs_p": null,
"transcript": "NM_001441262.1",
"protein_id": "NP_001428191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1393-6G>A",
"hgvs_p": null,
"transcript": "NM_001441263.1",
"protein_id": "NP_001428192.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 613,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "NM_001161707.2",
"protein_id": "NP_001155179.1",
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1354-6G>A",
"hgvs_p": null,
"transcript": "NM_001441264.1",
"protein_id": "NP_001428193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "n.630-3171C>T",
"hgvs_p": null,
"transcript": "ENST00000524834.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "n.150-6G>A",
"hgvs_p": null,
"transcript": "ENST00000526519.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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{
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{
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],
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"splice_prediction_selected": "Pathogenic",
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"bayesdelnoaf_score": -0.77,
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"phylop100way_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": 3,
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"acmg_by_gene": [
{
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"PM2",
"PP3"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AD,Unknown",
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{
"score": 3,
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"PM2",
"PP3"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000524834.5",
"gene_symbol": "ST3GAL4",
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}