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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: 12-12162246-C-CAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=12162246&ref=C&alt=CAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 12162246,
"ref": "C",
"alt": "CAA",
"effect": "frameshift_variant",
"transcript": "NM_001414244.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "NM_002336.3",
"protein_id": "NP_002327.2",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1613,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261349.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002336.3"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "ENST00000261349.9",
"protein_id": "ENSP00000261349.4",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1613,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002336.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261349.9"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "ENST00000543091.1",
"protein_id": "ENSP00000442472.1",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1568,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "n.1816_1817dupTT",
"hgvs_p": null,
"transcript": "ENST00000538239.5",
"protein_id": "ENSP00000445083.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000538239.5"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "NM_001414244.1",
"protein_id": "NP_001401173.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1644,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414244.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "ENST00000864649.1",
"protein_id": "ENSP00000534708.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1644,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864649.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2248_2249dupTT",
"hgvs_p": "p.Leu750fs",
"transcript": "ENST00000864650.1",
"protein_id": "ENSP00000534709.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1621,
"cds_start": 2249,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864650.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "NM_001414245.1",
"protein_id": "NP_001401174.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1613,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414245.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "ENST00000940211.1",
"protein_id": "ENSP00000610270.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1613,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940211.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2215_2216dupTT",
"hgvs_p": "p.Leu739fs",
"transcript": "ENST00000940213.1",
"protein_id": "ENSP00000610272.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1610,
"cds_start": 2216,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940213.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "NM_001414246.1",
"protein_id": "NP_001401175.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1568,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414246.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2026_2027dupTT",
"hgvs_p": "p.Leu676fs",
"transcript": "NM_001414247.1",
"protein_id": "NP_001401176.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 1547,
"cds_start": 2027,
"cds_end": null,
"cds_length": 4644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414247.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2026_2027dupTT",
"hgvs_p": "p.Leu676fs",
"transcript": "ENST00000864647.1",
"protein_id": "ENSP00000534706.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 1547,
"cds_start": 2027,
"cds_end": null,
"cds_length": 4644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864647.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "NM_001414248.1",
"protein_id": "NP_001401177.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1545,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414248.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "NM_001414249.1",
"protein_id": "NP_001401178.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1527,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414249.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "NM_001414250.1",
"protein_id": "NP_001401179.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1519,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414250.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "NM_001414251.1",
"protein_id": "NP_001401180.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414251.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs",
"transcript": "ENST00000940212.1",
"protein_id": "ENSP00000610271.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2225,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940212.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1771_1772dupTT",
"hgvs_p": "p.Leu591fs",
"transcript": "NM_001414252.1",
"protein_id": "NP_001401181.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1772,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414252.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1771_1772dupTT",
"hgvs_p": "p.Leu591fs",
"transcript": "NM_001414253.1",
"protein_id": "NP_001401182.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1772,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414253.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1771_1772dupTT",
"hgvs_p": "p.Leu591fs",
"transcript": "NM_001414254.1",
"protein_id": "NP_001401183.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1772,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414254.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1717_1718dupTT",
"hgvs_p": "p.Leu573fs",
"transcript": "NM_001414255.1",
"protein_id": "NP_001401184.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1444,
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},
{
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},
{
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],
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{
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"non_coding_transcript_exon_variant"
],
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},
{
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],
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},
{
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],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000298566.2"
}
],
"gene_symbol": "LRP6",
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"dbsnp": "rs864309649",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001414244.1",
"gene_symbol": "LRP6",
"hgnc_id": 6698,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2224_2225dupTT",
"hgvs_p": "p.Leu742fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000298566.2",
"gene_symbol": "BCL2L14",
"hgnc_id": 16657,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*24+23270_*24+23271dupAA",
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}
],
"clinvar_disease": " 7, selective,Tooth agenesis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Tooth agenesis, selective, 7",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}