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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: 21-46191155-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46191155&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46191155,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_002340.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2148C>G",
"hgvs_p": "p.Leu716Leu",
"transcript": "NM_002340.6",
"protein_id": "NP_002331.3",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 732,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397728.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002340.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2148C>G",
"hgvs_p": "p.Leu716Leu",
"transcript": "ENST00000397728.8",
"protein_id": "ENSP00000380837.2",
"transcript_support_level": 1,
"aa_start": 716,
"aa_end": null,
"aa_length": 732,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002340.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397728.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2148C>G",
"hgvs_p": "p.Leu716Leu",
"transcript": "ENST00000356396.8",
"protein_id": "ENSP00000348762.3",
"transcript_support_level": 1,
"aa_start": 716,
"aa_end": null,
"aa_length": 732,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356396.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1908C>G",
"hgvs_p": "p.Leu636Leu",
"transcript": "ENST00000457828.6",
"protein_id": "ENSP00000409191.2",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 652,
"cds_start": 1908,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457828.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2178C>G",
"hgvs_p": "p.Leu726Leu",
"transcript": "ENST00000908051.1",
"protein_id": "ENSP00000578110.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 742,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908051.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2148C>G",
"hgvs_p": "p.Leu716Leu",
"transcript": "NM_001001438.3",
"protein_id": "NP_001001438.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 732,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001438.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2145C>G",
"hgvs_p": "p.Leu715Leu",
"transcript": "ENST00000957230.1",
"protein_id": "ENSP00000627289.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 731,
"cds_start": 2145,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957230.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2145C>G",
"hgvs_p": "p.Leu715Leu",
"transcript": "ENST00000957231.1",
"protein_id": "ENSP00000627290.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 731,
"cds_start": 2145,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957231.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2145C>G",
"hgvs_p": "p.Leu715Leu",
"transcript": "ENST00000957233.1",
"protein_id": "ENSP00000627292.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 731,
"cds_start": 2145,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957233.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2115C>G",
"hgvs_p": "p.Leu705Leu",
"transcript": "NM_001145436.2",
"protein_id": "NP_001138908.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 721,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145436.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2115C>G",
"hgvs_p": "p.Leu705Leu",
"transcript": "ENST00000522411.5",
"protein_id": "ENSP00000429133.1",
"transcript_support_level": 2,
"aa_start": 705,
"aa_end": null,
"aa_length": 721,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522411.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2097C>G",
"hgvs_p": "p.Leu699Leu",
"transcript": "ENST00000957229.1",
"protein_id": "ENSP00000627288.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 715,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957229.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2091C>G",
"hgvs_p": "p.Leu697Leu",
"transcript": "ENST00000908053.1",
"protein_id": "ENSP00000578112.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 713,
"cds_start": 2091,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908053.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2082C>G",
"hgvs_p": "p.Leu694Leu",
"transcript": "ENST00000908050.1",
"protein_id": "ENSP00000578109.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 710,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908050.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2079C>G",
"hgvs_p": "p.Leu693Leu",
"transcript": "ENST00000937739.1",
"protein_id": "ENSP00000607798.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 709,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937739.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2049C>G",
"hgvs_p": "p.Leu683Leu",
"transcript": "ENST00000908054.1",
"protein_id": "ENSP00000578113.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 699,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908054.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Leu681Leu",
"transcript": "ENST00000937740.1",
"protein_id": "ENSP00000607799.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 697,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937740.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1977C>G",
"hgvs_p": "p.Leu659Leu",
"transcript": "ENST00000957232.1",
"protein_id": "ENSP00000627291.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 675,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957232.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1917C>G",
"hgvs_p": "p.Leu639Leu",
"transcript": "ENST00000908052.1",
"protein_id": "ENSP00000578111.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 655,
"cds_start": 1917,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908052.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1911C>G",
"hgvs_p": "p.Leu637Leu",
"transcript": "ENST00000908055.1",
"protein_id": "ENSP00000578114.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 653,
"cds_start": 1911,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908055.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1908C>G",
"hgvs_p": "p.Leu636Leu",
"transcript": "NM_001145437.2",
"protein_id": "NP_001138909.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 652,
"cds_start": 1908,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145437.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1851C>G",
"hgvs_p": "p.Leu617Leu",
"transcript": "ENST00000937737.1",
"protein_id": "ENSP00000607796.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 633,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
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{
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{
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{
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{
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],
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"gnomad_genomes_af": 0.00000656875,
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"gnomad_genomes_ac": 1,
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"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.747,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002340.6",
"gene_symbol": "LSS",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2148C>G",
"hgvs_p": "p.Leu716Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}