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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: 10-814826-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=814826&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 814826,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000316157.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "NM_015155.3",
"protein_id": "NP_055970.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 738,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": "ENST00000316157.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "ENST00000316157.8",
"protein_id": "ENSP00000326128.3",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 738,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": "NM_015155.3",
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.3356G>C",
"hgvs_p": null,
"transcript": "ENST00000609318.5",
"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": 4848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.4836G>C",
"hgvs_p": "p.Gln1612His",
"transcript": "ENST00000689323.1",
"protein_id": "ENSP00000510165.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1735,
"cds_start": 4836,
"cds_end": null,
"cds_length": 5208,
"cdna_start": 4897,
"cdna_end": null,
"cdna_length": 8646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "NM_001351277.2",
"protein_id": "NP_001338206.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 773,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 8651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1698G>C",
"hgvs_p": "p.Gln566His",
"transcript": "ENST00000688365.1",
"protein_id": "ENSP00000509705.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 689,
"cds_start": 1698,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.540G>C",
"hgvs_p": "p.Gln180His",
"transcript": "ENST00000448368.5",
"protein_id": "ENSP00000394545.1",
"transcript_support_level": 4,
"aa_start": 180,
"aa_end": null,
"aa_length": 338,
"cds_start": 540,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.693G>C",
"hgvs_p": "p.Gln231His",
"transcript": "ENST00000690211.1",
"protein_id": "ENSP00000509846.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 288,
"cds_start": 693,
"cds_end": null,
"cds_length": 867,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.270G>C",
"hgvs_p": "p.Gln90His",
"transcript": "ENST00000440895.2",
"protein_id": "ENSP00000403018.2",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 189,
"cds_start": 270,
"cds_end": null,
"cds_length": 570,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Gln121His",
"transcript": "ENST00000614908.5",
"protein_id": "ENSP00000483973.2",
"transcript_support_level": 4,
"aa_start": 121,
"aa_end": null,
"aa_length": 155,
"cds_start": 363,
"cds_end": null,
"cds_length": 468,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.3345G>C",
"hgvs_p": "p.Gln1115His",
"transcript": "XM_017015987.2",
"protein_id": "XP_016871476.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3345,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3411,
"cdna_end": null,
"cdna_length": 9900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.3345G>C",
"hgvs_p": "p.Gln1115His",
"transcript": "XM_017015988.2",
"protein_id": "XP_016871477.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3345,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3411,
"cdna_end": null,
"cdna_length": 9795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.3345G>C",
"hgvs_p": "p.Gln1115His",
"transcript": "XM_017015989.2",
"protein_id": "XP_016871478.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3345,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3411,
"cdna_end": null,
"cdna_length": 7210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "XM_017015990.2",
"protein_id": "XP_016871479.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 773,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 11364,
"cdna_end": null,
"cdna_length": 17853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "XM_047424892.1",
"protein_id": "XP_047280848.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 773,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 18870,
"cdna_end": null,
"cdna_length": 25359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "XM_047424893.1",
"protein_id": "XP_047280849.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 773,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 5099,
"cdna_end": null,
"cdna_length": 11588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "XM_047424894.1",
"protein_id": "XP_047280850.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 773,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 8822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "XM_047424895.1",
"protein_id": "XP_047280851.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 773,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2753,
"cdna_end": null,
"cdna_length": 9242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "XM_047424896.1",
"protein_id": "XP_047280852.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 738,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 18870,
"cdna_end": null,
"cdna_length": 25254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "XM_047424897.1",
"protein_id": "XP_047280853.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 738,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 8717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "XM_047424898.1",
"protein_id": "XP_047280854.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 707,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Gln615His",
"transcript": "XM_047424899.1",
"protein_id": "XP_047280855.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 707,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 18870,
"cdna_end": null,
"cdna_length": 22774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
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},
{
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},
{
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},
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},
{
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},
{
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},
{
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"consequences": [
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],
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}
],
"gene_symbol": "LARP4B",
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"dbsnp": "rs373303689",
"frequency_reference_population": 0.00013406941,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.000141972,
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"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21179363131523132,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.1237,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.499,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000316157.8",
"gene_symbol": "LARP4B",
"hgnc_id": 28987,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1845G>C",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}